ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)

dbSNP: rs397508413
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000576558 SCV000677628 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000576558 SCV001169517 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000576558 SCV001372282 pathogenic Cystic fibrosis 2020-06-01 criteria provided, single submitter clinical testing Variant summary: CFTR c.2645G>A (p.Trp882X) 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 251468 control chromosomes. c.2645G>A has been reported in the literature in individuals affected with Cystic Fibrosis (example, Clausters_2000, LeMarchal_2001, Sermet-Gaudelus_2010, Lucarelli_2017, Dewulf_2015). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two submitters including an expert panel (CFTR2) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV003466905 SCV004215772 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2022-08-13 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576558 SCV000679355 not provided Cystic fibrosis no assertion provided literature only
Natera, Inc. RCV001826644 SCV002080784 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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