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)