ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1384C>T (p.Leu462Phe)

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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 RCV003794218 SCV004584726 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-06-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 462 of the JUP protein (p.Leu462Phe). 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. This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782643399, gnomAD 0.0009%).

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