ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)

dbSNP: rs1596481464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992553 SCV001144951 likely pathogenic not provided 2019-05-10 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/266904 chr).
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095552 SCV001251183 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP3, PP4, PP5
GeneDx RCV000992553 SCV003921487 pathogenic not provided 2022-11-01 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: 25525159, 17582161, 33454723)

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