ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)

dbSNP: rs193922514
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000029510 SCV003497493 pathogenic Cystic fibrosis 2022-01-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 35855). This sequence change creates a premature translational stop signal (p.Lys978*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473136 SCV004213499 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-05-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029510 SCV000052161 likely pathogenic Cystic fibrosis 2015-10-02 no assertion criteria provided clinical testing
Counsyl RCV000029510 SCV000798430 likely pathogenic Cystic fibrosis 2018-03-05 no assertion criteria provided clinical testing
Natera, Inc. RCV000029510 SCV001461251 likely pathogenic Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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