ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2128C>T (p.Pro710Ser) (rs782693565)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535229 SCV000645733 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-08-02 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 710 of the JUP protein (p.Pro710Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs782693565, ExAC 0.005%) 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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