ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.385T>C (p.Cys129Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004798314 SCV005419703 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing Identified in two unrelated individuals with ADPKD in the published literature (PMID: 29529603, 22508176); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23431072, 29529603, 22508176)
Fulgent Genetics, Fulgent Genetics RCV005006567 SCV005640661 likely pathogenic Polycystic kidney disease, adult type 2024-01-13 criteria provided, single submitter clinical testing

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