ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1916A>G (p.Glu639Gly)

gnomAD frequency: 0.00001  dbSNP: rs1914057795
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002042983 SCV002301178 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-12-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 639 of the JUP protein (p.Glu639Gly).

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