ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3605del (p.Asp1202fs)

dbSNP: rs397508587
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046933 SCV000245905 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000046933 SCV001169252 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV000046933 SCV001582523 pathogenic Cystic fibrosis 2020-04-30 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with CFTR-related conditions (PMID: 1284537, 21520337). This variant is also known as 3737delA in the literature. ClinVar contains an entry for this variant (Variation ID: 53777). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp1202Alafs*9) in the CFTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005031513 SCV005666419 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2024-04-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831776 SCV002075852 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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