ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1745G>A (p.Arg582Gln)

dbSNP: rs781828085
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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 RCV000621005 SCV000737042 uncertain significance Cardiovascular phenotype 2017-11-03 criteria provided, single submitter clinical testing The p.R582Q variant (also known as c.1745G>A), located in coding exon 9 of the JUP gene, results from a G to A substitution at nucleotide position 1745. The arginine at codon 582 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001868107 SCV002254233 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-08-28 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 30847666). ClinVar contains an entry for this variant (Variation ID: 519077). 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 tolerated. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 582 of the JUP protein (p.Arg582Gln).

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