ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1490T>G (p.Leu497Arg)

gnomAD frequency: 0.00002  dbSNP: rs1327324458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001366945 SCV001563270 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-10-30 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 497 of the JUP protein (p.Leu497Arg). This variant is present in population databases (no rsID available, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1057877). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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.
Ambry Genetics RCV002395830 SCV002698737 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The p.L497R variant (also known as c.1490T>G), located in coding exon 7 of the JUP gene, results from a T to G substitution at nucleotide position 1490. The leucine at codon 497 is replaced by arginine, an amino acid with dissimilar 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.
Fulgent Genetics, Fulgent Genetics RCV001366945 SCV002786775 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-10-25 criteria provided, single submitter clinical testing

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