ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs)

gnomAD frequency: 0.00001  dbSNP: rs2091618729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001536126 SCV001752844 likely pathogenic Polycystic kidney disease, adult type 2021-06-30 criteria provided, single submitter clinical testing
GeneDx RCV005001227 SCV005626552 pathogenic not provided 2024-07-11 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: 35325889, 19686598)

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