ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4745G>A (p.Trp1582Ter)

dbSNP: rs2544818887
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003982585 SCV004796783 pathogenic PKD1-related disorder 2024-02-08 no assertion criteria provided clinical testing The PKD1 c.4745G>A variant is predicted to result in premature protein termination (p.Trp1582*). This variant has been reported to be pathogenic for autosomal dominant polycystic kidney disease (ADPKD) (Zhang et al. 2018. PubMed ID: 29633482; Pandita et al. 2019. PubMed ID: 30816285, Supplementary Table 2). 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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