ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.634C>G (p.Leu212Val)

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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 RCV002368966 SCV002659538 uncertain significance Cardiovascular phenotype 2022-05-24 criteria provided, single submitter clinical testing The p.L212V variant (also known as c.634C>G), located in coding exon 3 of the JUP gene, results from a C to G substitution at nucleotide position 634. The leucine at codon 212 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003776241 SCV004577717 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-05-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782377671, gnomAD 0.007%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 212 of the JUP protein (p.Leu212Val). ClinVar contains an entry for this variant (Variation ID: 1752992). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.

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