ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter)

dbSNP: rs2151772321
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001702993 SCV002498932 pathogenic not provided 2022-06-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31740684, 22508176)
Fulgent Genetics, Fulgent Genetics RCV005014611 SCV005638308 pathogenic Polycystic kidney disease, adult type 2024-03-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005014611 SCV005912094 pathogenic Polycystic kidney disease, adult type 2022-03-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702993 SCV001931533 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702993 SCV001956352 pathogenic not provided no assertion criteria provided clinical testing

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