ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1584del (p.Ser527_Tyr528insTer)

dbSNP: rs2527408768
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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 RCV003416676 SCV004109584 pathogenic PKD1-related disorder 2023-05-27 criteria provided, single submitter clinical testing The PKD1 c.1584delC variant is predicted to result in premature protein termination (p.Tyr528*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Alternative variants resulting in the same protein change c.1584C>A (p.Tyr528*) and c.1583dupA (p.Tyr528*) have been reported in patients with polycystic kidney disease (Carrera et al. 2016. PubMed ID: 27499327; Schönauer et al. 2020. PubMed ID: 32398770). Nonsense variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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