ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs)

dbSNP: rs387906359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000190991 SCV000245918 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000190991 SCV001426818 likely pathogenic Cystic fibrosis 2020-07-24 criteria provided, single submitter clinical testing Variant summary: CFTR c.2423_2424dupAT (p.Ser809IlefsX13) 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. This variant is also reported as legacy name 2556insAT, and can be referred to as c.2424_2425dupAT, c.2421_2422dupAT, and c.2422_2423insAT. The variant was absent in 179966 control chromosomes. c.2423_2424dupAT has been reported in the literature and in CF patient databases in individuals affected with Cystic Fibrosis (e.g. White_1990, CFTR2 database). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (after 2014 without evidence for independent evaluation) cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae RCV000190991 SCV001580683 pathogenic Cystic fibrosis 2021-08-28 criteria provided, single submitter clinical testing
OMIM RCV000190991 SCV000027742 pathogenic Cystic fibrosis 1990-04-12 no assertion criteria provided literature only

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