ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6730C>G (p.Leu2244Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003051431 SCV003449296 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 2244 of the PKHD1 protein (p.Leu2244Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003418728 SCV004116439 uncertain significance PKHD1-related disorder 2022-09-19 criteria provided, single submitter clinical testing The PKHD1 c.6730C>G variant is predicted to result in the amino acid substitution p.Leu2244Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51771091-G-C). 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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