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	2019-01-15	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). This variant has not been reported in the literature in individuals with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 239108). 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.

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