ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val)

gnomAD frequency: 0.00015  dbSNP: rs550768338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002109 SCV001159956 likely benign Polycystic kidney disease, adult type 2018-07-11 criteria provided, single submitter clinical testing
GeneDx RCV001819715 SCV002064172 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing Observed in a patient with familial intracranial aneurysm without features of ADPKD in published literature (Hirota et al., 2016); Reported as a likely benign variant in an individual with ADPKD in published literature (He et at., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27567292, 30333007)

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