ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8492G>A (p.Arg2831Lys)

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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 RCV003402950 SCV004119155 uncertain significance PKHD1-related disorder 2022-08-29 criteria provided, single submitter clinical testing The PKHD1 c.8492G>A variant is predicted to result in the amino acid substitution p.Arg2831Lys. This variant was reported in an individual with polycystic kidney disease, but the second plausible pathogenic PKHD1 variant was not found (Bergmann et al. 2005. PubMed ID: 15698423). This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51640668-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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