ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11270-25_11316del

dbSNP: rs2544625593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003397380 SCV004105049 pathogenic PKD1-related disorder 2023-08-07 criteria provided, single submitter clinical testing The PKD1 c.11270-25_11316del72 variant is predicted to result in a frameshift and premature protein termination (p.Ala3757Glyfs*43). This variant was reported to segregate with disease in a family with polycystic kidney disease and splicing studies found this variant results in an inframe deletion of the first 17 amino acids of the exon (referred to as IVS39+266del72 in Peral et al. 1996. PubMed ID: 8554072). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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