ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter)

dbSNP: rs546354639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095611 SCV001251247 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP4, PP5
GeneDx RCV004726880 SCV005332373 pathogenic not provided 2023-12-21 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: 33454723)

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