Is it possible for a gene mutation to be seen in disease patients, but still be benign?

I am totally grasping at straws here.. But since I have gotten a gene test that found a VUS in MYH7, because of my mom’s diagnosis of HCM, I have been an absolute anxious disaster. I feel like I am doomed and I am constantly filled with dread. I honestly wish I never got the genetic testing done and just did continuous cardiac followups, but hindsight is 20/20.

The variant was classified as VUS on my genetic report, but on my mom’s genetic report the same variant is classified as Pathogenic through a different lab. And obviously she has HCM. In Clinvar it is conflicting pathogenicity.

I am just trying to get any information I possibly can. I have literally been destroyed over this and terrified. This has come as a total shock to me. Does anyone have any way you can see information that I can’t regarding my variant? Access to Varsome or anything that can help me understand something!! Literally anything. Is it at all possible for this to be benign, or is it safe for me to assume this is a fully pathogenic variant?

The variant is: p.Ala850Thr in MYH7

Please feel free to dm me with any info

(I am seeing a genetic counselor but not for a while)

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u/OwnSort6545 — 3 days ago

Question About Genetic Report ~ VUS/Pathogenic?

Hi all,

I made a post in here a few weeks ago about my gene mutation identified as p.Ala850Thr in the MYH7 gene. My genetic report from Prevention Genetics labeled this as a VUS May 2026. My mom has a diagnosis of Hypertrophic Obstructive Cardiomyopathy and I have since received her genetic report, which has the exact same variant labeled as Pathogenic in her report from Labcorp (her report was from March 2026)

My question is should I notify my lab of my mom’s lab report labeling it as Pathogenic for reclassification purposes? When I look on google that is what it keeps saying I should do. How would I even go about doing this?

I spoke with a genetic counselor who essentially acknowledged this variant as suspicious, but was acting as though it was a true VUS, and kept saying there’s limited to no evidence to know if it’s disease causing and doctors may not use this report for testing purposes because of it. But this was all before I received my mom’s report showing that it is a pathogenic variant.

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u/OwnSort6545 — 9 days ago
▲ 31 r/bcba

I wish I never pursued this career

Finding a job has been HELL. All I want is a full time salary role for benefits and consistency. I can’t live off of constant cancellations. I find a full time job with a great salary and benefits and we go through the month long process of credentialing. I am finally credentialed and suddenly… they tell me they have no cases available and are not sure when they will, but they’ll keep me in mind.

Are you kidding me?? I live in a HCOL area, I can’t live off of a possibility that I may be able to work at some point? Wtf is this? I have never in my life heard of this, I signed an official offer letter and was fully offered a full time role, and it isn’t a scam company btw, they are reputable and I have heard of other people working part time through them.

Finding work in this career is absolutely the most stressful shit I’ve ever encountered. When I was studying, all I heard was there are so many job opportunities and you can make so much money and bcbas are in demand, don’t believe it. In a perfect world you make so much money if you overload your caseload and there’s never any cancellations. The reality is that I’ve made $15,000 in the past 6 months in an area where rent is $3500 a month.

Do not let this career fool you. Think long and hard about if you want to do this and deal with this before putting money and stress into getting this degree and passing this exam.

I have so much regret.

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u/OwnSort6545 — 27 days ago

Confused about genetic result

My mom was diagnosed with HOCM, but as far as I know, no other family has had issues specifically with HCM (they all had heart issues, a lot of plaque buildup and heart attacks due to that, but they were all very unhealthy) so it has come as a shock that this is a “silent” genetic mutation that has run through our family for quite some time until now.

They found a mutation of the MYH7 gene in my mom, which prompted me to get gene tested. I showed up positive for a gene mutation as well, but it was labeled as- Variant of Unknown Significance. According to my most recent echo, I am phenotype negative at this time.

I have done countless research trying to figure this out. This variant is extremely rare, but on ClinVar, has 5 labs who labeled it as VUS in the past and one lab that labeled it as Likely Pathogenic, but my lab most recently labeled it as VUS.

I don’t have my mom’s genetic report yet, she thinks hers was labeled as pathogenic. Unsure if it’s the same variant at this time, but I’d assume so…?

Why can’t they just label it as pathogenic if that’s what they think it is??? It’s frustrating because it is giving me false hope when I know realistically I shouldn’t have hope and it’s likely pathogenic.

Has anyone else had an issue similar to this with genetic testing?

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u/OwnSort6545 — 29 days ago

Need help coping with fear from genetic results

Hey guys, I come here because I don’t know where else to go for this. Please do not read this post if you are easily triggered by heart disease/cardiac issues especially familial ones!!

This is kind of long so please bear with me.

My mom was diagnosed with Hypertrophic Cardiomyopathy. She was told it’s a genetic heart disease, so they found the gene mutation that caused it and she told me so I could get tested.

I was already at the cardiologist for my yearly checkups that I get anyway due to my severe anxiety and tachycardia, so I said why not. I truly, in my bones, thought I’d be fine. Btw, I’m also pregnant in my second trimester.

I innocently get the gene test and go about my life. I feel excitement for my baby coming, thinking about baby gear, baby showers, my registry, etc. it was truly blissful. Then, this Monday, I get a call from my cardiologist that I tested positive for the gene mutation that my mom has that essentially gives me up to a 70% chance of developing the same heart disease she has. It’s a variable penetrance, meaning it could develop or could never develop at all, and if it does, there’s no telling how severe it can be.

To say my anxiety has skyrocketed is an understatement. Any joy I initially felt from my pregnancy has turned to complete fear for my baby and future children. I am terrified of passing this onto my baby and other kids I have. I feel terrified day and night, the feeling does not stop, I don’t know if I’ll ever be normal and enjoy life again. This is ruining my relationship with my husband. I feel no excitement or desire to do anything and can barely eat. There have been several panic attacks where I thought I’d have to admit myself to a psych hospital, I even called a crisis hotline out of pure desperation. I have been obsessively scrolling through news articles and research and facebook and everything about this disease, OBSESSIVELY. I’m talking from morning to night, and I can’t get myself to stop.

I have a therapist but can only see her once every 2 weeks due to copay expenses for an hour and it’s helpful but only for a little while until it wears off. If anybody has been through something similar I would appreciate any advice on how to handle this. Thank you so much for reading.

reddit.com
u/OwnSort6545 — 29 days ago

I’m having a hard time coping with my genetic results

Hey guys, I come here because I don’t know where else to go for this. Please do not read this post if you are easily triggered by heart disease/cardiac issues!

This is kind of long so please bear with me.

My mom was diagnosed with Hypertrophic Cardiomyopathy. She was told it’s a genetic heart disease, so they found the gene mutation that caused it and she told me so I could get tested.

I was already at the cardiologist for my yearly checkups that I get anyway due to my severe anxiety and tachycardia, so I said why not. I truly, in my bones, thought I’d be fine. Btw, I’m also pregnant in my second trimester.

I innocently get the gene test and go about my life. I feel excitement for my baby coming, thinking about baby gear, baby showers, my registry, etc. it was truly blissful. Then, this Monday, I get a call from my cardiologist that I tested positive for the gene mutation that my mom has that essentially gives me up to a 70% chance of developing the same heart disease she has. It’s a variable penetrance, meaning it could develop or could never develop at all, and if it does, there’s no telling how severe it can be.

To say my anxiety has skyrocketed is an understatement. Any joy I initially felt from my pregnancy has turned to complete fear for my baby and future children. I am terrified of passing this onto my baby and other kids I have. I feel terrified day and night, the feeling does not stop, I don’t know if I’ll ever be normal and enjoy life again. This is ruining my relationship with my husband. I feel no excitement or desire to do anything and can barely eat. There have been several panic attacks where I thought I’d have to admit myself to a psych hospital, I even called a crisis hotline out of pure desperation. I have been obsessively scrolling through news articles and research and facebook and everything about this disease, OBSESSIVELY. I’m talking from morning to night, and I can’t get myself to stop.

I have a therapist but can only see her once every 2 weeks due to copay expenses for an hour and it’s helpful but only for a little while until it wears off. If anybody has been through something similar I would appreciate any advice on how to handle this. Thank you so much for reading.

reddit.com
u/OwnSort6545 — 29 days ago

Question regarding result on genetic report - gene variant labeled as VUS?

Hi all,

Hopefully this post is allowed… some background, my mom has Hypertrophic Obstructive Cardiomyopathy and they were able to find her gene mutation: MYH7. I recently got genetically tested and tested positive for the same mutation but currently phenotype negative based on my most recent cardiology appointment. Overall my mom has a relatively mild presentation due to early intervention of the disease and nobody else in my family history has ever been diagnosed nor passed away from the disease.

Anyway, my specific variant of the MYH7 gene mutation is apparently extremely rare. It is c.2548G>A, p.Ala850Thr

on my genetic report it states:

In silico Missense Prediction: Damaging

Interpretation: Uncertain

Summary of results: Indeterminate

Later stating this variant as a variant of unknown significance. However I was looking at the Clinvar archive and saw that this exact gene variant has been labeled in 2025 as likely pathogenic.

Why on my report that I received in May 2026, is it not labeled as likely pathogenic then? What is causing this variant to be labeled as VUS?

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u/OwnSort6545 — 1 month ago

Joie Ginger DLX and Rue travel system, or Joie Ginger DLX and Mint travel system?

Deciding between the Rue carseat or Mint. I like that the Mint doesn't have to have a base which allows it to go in any car, but I also feel a little weirded out about it not having a base. I know it's still safe but for some reason my mind can't get past it.

Which one is most preferred?

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u/OwnSort6545 — 1 month ago
▲ 9 r/bcba

Is it considered client abandonment if I quit due to not being paid adequately?

I have not been paid for my services since March. I keep being told that my company is contacting the district, all this shit and nothing happens. I want to quit but am concerned about leaving my clients with no services and do not want to commit an ethical violation.

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u/OwnSort6545 — 2 months ago
▲ 22 r/bcba

Is this job too good to be true?

I recently signed on to a remote company with a salaried pay of $140k it does have a high caseload, around 25 cases. Does this sound too good to be true? I’ve never heard of a BCBA being paid that much, most of the salaried BCBA positions near me are 70-80k typically.

Just want to know if it’s a scam? The reviews seem legit. Is it possible for BCBAs to make that much?

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u/OwnSort6545 — 2 months ago
▲ 0 r/bcba

I am currently 18 wks pregnant and was just offered a hybrid remote job that seems perfect for me at a VERY high salary compared to what ive been seeing and getting offered. However, the problem is that I am pregnant and have obviously not disclosed this to them yet.

During the interview they stated that it may take 4 months to become credentialed through medicaid, which Ok no worries, except if it takes 4 months I will literally have 1 month or less to actually work before I need to take leave to have my baby.

I know that I obviously will not qualify for paid leave at that point but will need unpaid leave even for the minimum 6 weeks. I am scared to tell them before starting that I will need maternity leave as I have always been advised to not do so until you actually start due to discrimination and whatnot. However I am also scared to tell them after I am credentialed and technically started as I will only have a few weeks of working (if that) before going out on leave.

I recently was completely ghosted by a company who I had really been looking forward to working with for no reason at all, so I am nervous about this happening with this job or them rescinding the offer. Any advice?? :(

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u/OwnSort6545 — 2 months ago

I am currently 18 weeks pregnant, and was just offered a remote full time job in my field out of the state of MO. I live in a different state so I am unfamiliar with MO’s maternity laws, it looks like it’s fully up to the company’s discretion to give you paid or even unpaid time for maternity leave unless you qualify for FMLA which I don’t as I wouldn’t have been there 12 months. In their benefits package they sent there is no mention of maternity or other paid leave.

My question is should I disclose my pregnancy to the HR coordinator and find out whether they would offer me any leave before I sign the offer letter? I don’t want to waste time and money (on licensing) in that state if they will essentially fire me once I have my baby in 4-5 months. However I also know that while illegal, discrimination can most certainly cause random ghosting or rescinding the offer for “other reasons”

Does anyone have any advice please? Not sure what to do.

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u/OwnSort6545 — 2 months ago

Anyone have any recommendations for daycare in suffolk county that isn’t through the roof expensive? I know that’s a tough ask around here 🙄 I’m having a baby soon and trying to get quotes all around.

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u/OwnSort6545 — 2 months ago