ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1136dup (p.Asn379fs)

dbSNP: rs2092665918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281309 SCV001425147 pathogenic Polycystic kidney disease, adult type 2020-02-01 criteria provided, single submitter research
GeneDx RCV004774361 SCV005387090 pathogenic not provided 2024-02-08 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: 33532864)

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