ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.655C>T (p.Gln219Ter)

dbSNP: rs2092673393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253185 SCV001428776 likely pathogenic Polycystic kidney disease, adult type 2019-08-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004740637 SCV005349927 pathogenic PKD1-related disorder 2024-05-24 no assertion criteria provided clinical testing The PKD1 c.655C>T variant is predicted to result in premature protein termination (p.Gln219*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Nonsense variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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