ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4186del (p.Asp1396fs)

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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 RCV004730327 SCV005339679 pathogenic PKD1-related disorder 2024-06-07 no assertion criteria provided clinical testing The PKD1 c.4186delG variant is predicted to result in a frameshift and premature protein termination (p.Asp1396Thrfs*36). 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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