ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7275del (p.Phe2425fs)

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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 RCV003912306 SCV004725029 pathogenic PKHD1-related disorder 2024-02-15 criteria provided, single submitter clinical testing The PKHD1 c.7275delT variant is predicted to result in a frameshift and premature protein termination (p.Phe2425Leufs*43). This variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Truncating variants in PKHD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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