ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9040dup (p.Leu3014fs)

dbSNP: rs2544733556
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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 RCV003896561 SCV004711352 pathogenic PKD1-related disorder 2023-12-21 no assertion criteria provided clinical testing The PKD1 c.9040dupC variant is predicted to result in a frameshift and premature protein termination (p.Leu3014Profs*55). 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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