ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3802C>T (p.Gln1268Ter)

dbSNP: rs2092500037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV005002028 SCV005627664 pathogenic Polycystic kidney disease, adult type 2024-09-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909873 SCV004720986 pathogenic PKD1-related disorder 2023-11-09 no assertion criteria provided clinical testing The PKD1 c.3802C>T variant is predicted to result in premature protein termination (p.Gln1268*). This variant has been reported to be pathogenic for autosomal dominant polycystic kidney disease (ADPKD) (Nigro et al. 2023. PubMed ID: 37372416). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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