ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12095G>A (p.Gly4032Asp)

dbSNP: rs142768096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248099 SCV002519129 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV002508341 SCV002818062 uncertain significance not provided 2024-03-28 criteria provided, single submitter clinical testing Identified in a patient with polycystic kidney disease (PMID: 9521593); Published functional studies demonstrate decreased glycosylation and impaired membrane association (PMID: 21142036); In silico analysis supports that this missense variant does not alter protein structure/function; Also reported as G4031D; This variant is associated with the following publications: (PMID: 30476936, 21142036, 9521593)

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