ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1619G>T (p.Arg540Leu)

gnomAD frequency: 0.00001  dbSNP: rs376881608
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001363591 SCV001559709 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2020-01-21 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with JUP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 540 of the JUP protein (p.Arg540Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine.

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