ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1393C>T (p.Arg465Cys)

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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 RCV002588736 SCV003495444 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-03-20 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 465 of the JUP protein (p.Arg465Cys). 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 2178884). This missense change has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 25765472). This variant is present in population databases (rs782513393, gnomAD 0.01%).

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