ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6659T>A (p.Leu2220His)

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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 RCV003896884 SCV004712157 likely pathogenic PKHD1-related disorder 2024-02-20 criteria provided, single submitter clinical testing The PKHD1 c.6659T>A variant is predicted to result in the amino acid substitution p.Leu2220His. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Of note, this variant has been found in the compound heterozygous state with a pathogenic PKHD1 variant in two siblings tested for polycystic kidney disease at PreventionGenetics. This variant is interpreted as likely pathogenic.

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