ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1021dup (p.Ala341fs)

dbSNP: rs2544878096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003402747 SCV004121269 pathogenic PKD1-related disorder 2023-08-28 criteria provided, single submitter clinical testing The PKD1 c.1021dupG variant is predicted to result in a frameshift and premature protein termination (p.Ala341Glyfs*30). To our knowledge, this variant has not been reported in the literature or 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005356423 SCV005913882 pathogenic Autosomal dominant polycystic kidney disease 2022-11-08 criteria provided, single submitter clinical testing

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