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c.3154T>G (p.Phe1052Val)
- Question
- Good morning, during the prenatal checkup we did the cystic fibrosis test and both my husband and I were 100% positive and we were both heterozygous for the c.3154T>G (p.Phe1052Val, rs150212784) variant. If the child turns out to be homozygous for c.3154T>G (p.Phe1052Val, rs150212784) what problems might he have?
Thank you very much in advance - Answer
- This combination of variants has varying consequences. Some patients with this combination of variants have CF while other patients with this combination of variants do not have CF.
Because of this variability, it is very important to use CLINICAL CRITERIA ONLY to determine whether a person with this variant has CF. Because the clinical manifestations of CF can vary over a person's lifetime, people who have this combination of variants should have periodic checkups with their doctor even if they do not currently have clinical signs or symptoms of CF.
Patients with cystic fibrosis who have this combination are likely to have pancreatic sufficiency and mild disease symptoms with an older age of onset.
Best regards,
M. Poulou - 05.03.2025
