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c.2991G>C (L997F)
- Question
- I am pregnant, and during prenatal screening for 99% of mutations, it was found that I am heterozygous for the nucleotide substitution c.2991G>C (p.Leu997Phe/L997F) in exon 17a (legacy name).
We were advised that my husband should also be tested for 99% of mutations. Am I considered a CF (Cystic Fibrosis) carrier?
While we are awaiting the results, if my husband also carries a mutation, how risky is it for the baby's health, and what are the potential future implications?
Thank you in advance! - Answer
- The c.2991G>C (L997F) variant is recorded in the CFTR2 database for cystic fibrosis (https://cftr2.org/mutation/general/L997F) as a variant that does not cause Cystic Fibrosis.
Since you have undergone comprehensive testing and no other mutations have been found, you are not considered a carrier of the disease.
Best regards,
M. Poulou - 25.04.2025
