ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2502dup (p.Asp835Ter)

dbSNP: rs397508389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV001009446 SCV001981574 pathogenic Cystic fibrosis 2021-09-24 reviewed by expert panel research
Baylor Genetics RCV001004479 SCV001163524 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV001009446 SCV001169497 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001009446 SCV005077012 pathogenic Cystic fibrosis 2024-04-23 criteria provided, single submitter clinical testing Variant summary: CFTR c.2502dupT (p.Asp835X) 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 is a commonly known mechanism for disease. The variant was absent in 1613160 control chromosomes (gnomAD v4.1). c.2502dupT has been reported in the literature in individuals affected with Cystic Fibrosis (e.g. Soltysova_2017). The following publication has been ascertained in the context of this evaluation (PMID: 28544683). ClinVar contains an entry for this variant (Variation ID: 53503). Based on the evidence outlined above, the variant was classified as pathogenic.
Natera, Inc. RCV001826639 SCV002080759 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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