ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)

dbSNP: rs58598099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992561 SCV001144960 likely pathogenic not provided 2018-09-24 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/155376 chr). Statistically enriched in patients compared to ethnically matched controls. Predicted to have a damaging effect on the protein.
Fulgent Genetics, Fulgent Genetics RCV002489472 SCV002803698 pathogenic Polycystic kidney disease, adult type 2021-10-11 criteria provided, single submitter clinical testing
GeneDx RCV000992561 SCV003921192 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17048214, 21551026, 17582161, 12842373, 26986070, 29860066, 22383692)

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