ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter)

dbSNP: rs397508533
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000191002 SCV000245950 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000191002 SCV001169287 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV000191002 SCV001381438 pathogenic Cystic fibrosis 2019-07-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1098*) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with cystic fibrosis (PMID: 23974870). ClinVar contains an entry for this variant (Variation ID: 209057). 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.
Natera, Inc. RCV001828014 SCV002083627 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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