ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1481A>G (p.Gln494Arg)

dbSNP: rs2143558258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002024021 SCV002310351 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-04-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 494 of the JUP protein (p.Gln494Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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. 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.
Ambry Genetics RCV002391133 SCV002698854 uncertain significance Cardiovascular phenotype 2018-12-03 criteria provided, single submitter clinical testing The p.Q494R variant (also known as c.1481A>G), located in coding exon 7 of the JUP gene, results from an A to G substitution at nucleotide position 1481. The glutamine at codon 494 is replaced by arginine, 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.

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