ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7146C>G (p.Ser2382Arg)

dbSNP: rs1385381682
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003319656 SCV004023554 uncertain significance not provided 2025-04-10 criteria provided, single submitter clinical testing Reported in a patient with cystic kidney disease in published literature; however, clinical information is limited (PMID: 35368817); 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: 35368817)

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