ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.475G>T (p.Val159Leu) (rs782702266)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542692 SCV000645739 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-10-16 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 159 of the JUP protein (p.Val159Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs782702266, ExAC 0.01%). This variant has been reported in individuals affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 18672408, 25820315), and in two related individuals with Brugada syndrome (PMID: 26230511). ClinVar contains an entry for this variant (Variation ID: 468754). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. 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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