ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2467G>T (p.Glu823Ter)

dbSNP: rs397508379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003475696 SCV004213566 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-12-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701076 SCV005203928 pathogenic Cystic fibrosis 2024-06-24 criteria provided, single submitter clinical testing Variant summary: CFTR c.2467G>T (p.Glu823X) 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. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. c.2467G>T has been reported in the literature in individuals affected with Cystic Fibrosis (example, Kanavakis_2003). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 12752573). ClinVar contains an entry for this variant (Variation ID: 2680717). Based on the evidence outlined above, the variant was classified as pathogenic.

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