ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9320_9324dup (p.Ile3109fs)

dbSNP: rs2544730274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003154124 SCV003842538 pathogenic not provided 2023-03-13 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17582161, 17574468)
PreventionGenetics, part of Exact Sciences RCV003928958 SCV004745336 pathogenic PKD1-related disorder 2024-02-14 no assertion criteria provided clinical testing The PKD1 c.9320_9324dup5 variant is predicted to result in a frameshift and premature protein termination (p.Ile3109Alafs*209). This variant has been reported to be pathogenic for autosomal dominant polycystic kidney disease (ADPKD) (Garcia-Gonzalez et al. 2007. PubMed ID: 17574468, Supplementary Table 1). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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