ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11729_11747del (p.Phe3910fs)

dbSNP: rs2544600433
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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 RCV003899618 SCV004714714 pathogenic PKD1-related disorder 2024-08-26 no assertion criteria provided clinical testing The PKD1 c.11729_11747del19 variant is predicted to result in a frameshift and premature protein termination (p.Phe3910Trpfs*29). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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