ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.764T>G (p.Leu255Arg) (rs878854482)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226940 SCV000287317 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2016-02-23 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 255 of the JUP protein (p.Leu255Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine 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 JUP-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 is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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