ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4462T>C (p.Ser1488Pro)

dbSNP: rs773746552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758198 SCV001985756 uncertain significance not provided 2021-04-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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: 26150605)
Fulgent Genetics, Fulgent Genetics RCV005006009 SCV005641164 likely pathogenic Polycystic kidney disease, adult type 2024-03-12 criteria provided, single submitter clinical testing

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