ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro)

dbSNP: rs2092051851
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095593 SCV001251228 uncertain significance Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PM2,PP3, PP4, PP5
Fulgent Genetics, Fulgent Genetics RCV001095593 SCV002791871 uncertain significance Polycystic kidney disease, adult type 2021-09-21 criteria provided, single submitter clinical testing
GeneDx RCV004726878 SCV005332372 uncertain significance not provided 2023-08-31 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: 33454723)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001095593 SCV005418831 likely pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PS4_Supporting+PP4+PM6_Supporting

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