ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.344G>A (p.Arg115Gln)

gnomAD frequency: 0.00001  dbSNP: rs369722007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001884963 SCV002162104 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 115 of the JUP protein (p.Arg115Gln). This variant is present in population databases (rs369722007, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1395108). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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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