ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)

dbSNP: rs2110127334
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001533185 SCV001746631 pathogenic Polycystic kidney disease 2 2021-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001533185 SCV001752715 likely pathogenic Polycystic kidney disease 2 2021-06-30 criteria provided, single submitter clinical testing
GeneDx RCV001548698 SCV001768656 pathogenic not provided 2022-12-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34426522, 36177613, 22863349, 34008892, 22508176)
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001533185 SCV001976970 pathogenic Polycystic kidney disease 2 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP5
PreventionGenetics, part of Exact Sciences RCV003908885 SCV004726855 pathogenic PKD2-related disorder 2023-10-25 criteria provided, single submitter clinical testing The PKD2 c.1837C>T variant is predicted to result in premature protein termination (p.Gln613*). This variant has been reported to be pathogenic for autosomal dominant polycystic kidney disease (ADPKD) (see for example at Robinson et al. 2012. PubMed ID: 22863349). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PKD2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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