ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)

dbSNP: rs1057518923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415421 SCV000492932 pathogenic Stage 5 chronic kidney disease; Hepatic cysts; Dilatation of the cerebral artery 2015-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481287 SCV002802124 pathogenic Polycystic kidney disease, adult type 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV003225066 SCV003921470 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing Frameshift 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: 17574468)

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