ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.601del (p.Val201fs)

dbSNP: rs397508767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV001009409 SCV001169321 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV001009409 SCV001383402 pathogenic Cystic fibrosis 2021-07-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val201Cysfs*14) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CFTR-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922).
Baylor Genetics RCV004566886 SCV005057421 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2024-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831800 SCV002078118 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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