ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.674C>T (p.Ser225Leu) (rs782685734)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645208 SCV000766950 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-11-16 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 225 of the JUP protein (p.Ser225Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs782685734, ExAC 0.008%). This variant has been reported in individuals affected with arrhythmogenic right ventricular cardiomyopathy, in one of them in combination with a pathogenic variant in the PKP2 gene (PMID: 20864495). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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