ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.568G>A (p.Val190Met) (rs370143312)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183488 SCV000235948 uncertain significance not provided 2014-07-10 criteria provided, single submitter clinical testing p.Val190Met (GTG>ATG): c.568 G>A in exon 4 of the JUP gene (NM_002230.2). The V190M variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V190M variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The V190M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The variant is found in ARRHYTHMIA panel(s).
Invitae RCV000688743 SCV000816366 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-03-05 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 190 of the JUP protein (p.Val190Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs370143312, ExAC 0.04%). This variant has not been reported in the literature in individuals with JUP-related disease. ClinVar contains an entry for this variant (Variation ID: 201814). 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: "Probably 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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