ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1987C>T (p.Arg663Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003789809 SCV004575950 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 663 of the JUP protein (p.Arg663Cys). This variant is present in population databases (rs782138974, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with JUP-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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