ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met)

gnomAD frequency: 0.00004  dbSNP: rs201858937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002146475 SCV002465917 likely benign Autosomal recessive polycystic kidney disease 2024-03-01 criteria provided, single submitter clinical testing
GeneDx RCV004729097 SCV005331855 uncertain significance not provided 2023-07-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005042744 SCV005671363 uncertain significance Polycystic kidney disease 4 2024-05-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003916325 SCV004730067 uncertain significance PKHD1-related disorder 2024-01-18 no assertion criteria provided clinical testing The PKHD1 c.4558G>A variant is predicted to result in the amino acid substitution p.Val1520Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51890050-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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