ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1838T>G (p.Leu613Arg)

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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 RCV003397373 SCV004105038 uncertain significance PKHD1-related disorder 2024-02-16 criteria provided, single submitter clinical testing The PKHD1 c.1838T>G variant is predicted to result in the amino acid substitution p.Leu613Arg. 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. Of note, at PreventionGenetics, we have found this variant in the compound heterozygous state with a likely pathogenic variant in a patient with cystic kidney disease noted at birth. Therefore, we suspect this variant could be pathogenic. At this time, however, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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