ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg) (rs1554263087)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553700 SCV000629934 uncertain significance Autosomal recessive polycystic kidney disease 2017-01-16 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 2757 of the PKHD1 protein (p.Pro2757Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PKHD1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
