ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter)

dbSNP: rs1567201083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757625 SCV000885924 pathogenic not provided 2017-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477741 SCV002792243 pathogenic Polycystic kidney disease, adult type 2022-02-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938142 SCV004750387 pathogenic PKD1-related condition 2023-10-30 criteria provided, single submitter clinical testing The PKD1 c.4177C>T variant is predicted to result in premature protein termination (p.Gln1393*). This variant has been reported in individuals with polycystic kidney disease (He et al. 2018. PubMed ID: 30333007; Zacchia et al. 2021. PubMed ID: 33964006). 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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