u/Few_Zucchini_4852

Hi All,

We recently found out my 10 yr old has 2 cftr variants, p.v456ala and 5t.12tg. Geneticist ruled it’s not classic cf as she didn’t show any symptoms.
But after insisting for the sweat test she came 55 and 59 on one of each hand whixh is borderline/intermediate results. Now I can relate to all the symptoms she complained to me about in the past. I totally was ignorant and unaware of CF.
I have asked my PCP to refer to pulmonologist and geneticist to do further evaluation. Meantime, I joined this group to find anyone with this mutation and any info is known abt this.

Hi All,

I have 2 embryos, both day 6, 5bb and 5cb. I’m waiting for the longest time due to pgtm as my probe wasn’t developed before ER. While I’m sitting and waiting on the results, my brains tricking me to think about what ifs. As most of them mentioned before with pgtm it’s a whole diff number game. How can I keep myself be positive in this waiting time? Anyone here had success with 2 embryos pls share your success stories it may help me a bit

Hi everyone, I’m trying to understand my daughter’s CFTR results and would appreciate input from anyone familiar with 5T and V456A.

She has 5T / 7T and also CFTR V456A (c.1367T>C / p.Val456Ala). From what we understand, V456A came from her dad and TG12-5T came from me, so they may be in trans.

She is a healthy girl, does not get sick often, has no chronic cough, no recurrent lung infections, no belly pain/pancreatitis symptoms, and no obvious digestion or growth concerns. Her newborn screen was negative.

We are planning to send everything to her pediatrician and ask about a sweat chloride test and/or genetics/pulmonology referral. I’m mostly trying to understand whether this combination usually causes problems later in life, or whether many people with this kind of combination stay healthy and are just monitored.

Any experiences with 5T/7T heterozygous in trans with another CFTR variant, especially V456A, would be appreciated. Thank you.

Recently, we did carrier screening for

my husband and myself, turns out to be he is a carrier for p.v456a variant and I carry 5t;12tg variant.

We decided to test our kids though their newborn screening test was negative

kid 1 - negative, just positive for 5t

kid2- positive for both variants p.456a and 5t;7t also mentions heterozygous.

I am waiting for the doc to reply but can’t get it out of my head.

Can anyone explains what does this mutation mean ? how it will impact.. kid is very healthy and no symptoms