ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003325811 SCV004031776 uncertain significance not provided 2023-02-28 criteria provided, single submitter clinical testing 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: 31349084)
Mayo Clinic Laboratories, Mayo Clinic RCV003325811 SCV005411224 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing PP1, PM2
Fulgent Genetics, Fulgent Genetics RCV005021911 SCV005643331 likely pathogenic Polycystic kidney disease, adult type 2024-06-06 criteria provided, single submitter clinical testing

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