ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)

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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 RCV002392004 SCV002702766 uncertain significance Cardiovascular phenotype 2018-07-06 criteria provided, single submitter clinical testing The p.R477C variant (also known as c.1429C>T), located in coding exon 7 of the JUP gene, results from a C to T substitution at nucleotide position 1429. The arginine at codon 477 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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 RCV003095146 SCV003032514 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-06-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1772442). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 477 of the JUP protein (p.Arg477Cys). 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. 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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