ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)

dbSNP: rs1567218310
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757634 SCV000885934 uncertain significance not provided 2017-10-17 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254297 SCV001430199 uncertain significance Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
Athena Diagnostics RCV000757634 SCV001476750 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000757634 SCV005375733 uncertain significance not provided 2023-11-16 criteria provided, single submitter clinical testing Reported with additional PKD1 variants in patient with in published literature; the authors propose all three PKD1 variants are on the same allele (in cis) (Xue et al., 2022); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: Xue2022[abstract])
Fulgent Genetics, Fulgent Genetics RCV005021146 SCV005640633 likely pathogenic Polycystic kidney disease, adult type 2024-03-28 criteria provided, single submitter clinical testing

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