ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs)

dbSNP: rs1584812217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004278 SCV001163154 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001280601 SCV001467814 likely pathogenic Cystic fibrosis 2020-12-07 criteria provided, single submitter clinical testing Variant summary: CFTR c.1920_1921dupTA (p.Ser641IlefsX23) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250756 control chromosomes. To our knowledge, no occurrence of c.1920_1921dupTA in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. This variant was observed with c.1521_1523delCTT (p.F508del) in at-least one individual (phase not determined) undergoing CFTR testing at our laboratory. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Natera, Inc. RCV001827168 SCV002080685 likely pathogenic CFTR-related disorder 2020-04-09 no assertion criteria provided clinical testing

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