ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11805dup (p.Trp3936fs)

dbSNP: rs2544599360
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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 RCV003397396 SCV004105076 pathogenic PKD1-related disorder 2023-07-01 criteria provided, single submitter clinical testing The PKD1 c.11805dupC variant is predicted to result in a frameshift and premature protein termination (p.Trp3936Leufs*25). 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.

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