ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) (rs782354654)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618150 SCV000736791 uncertain significance Cardiovascular phenotype 2017-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000545274 SCV000645728 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-12-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 577 of the JUP protein (p.Arg577Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs782354654, ExAC 0.02%) but has not been reported in the literature in individuals with a JUP-related disease. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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