ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.764T>G (p.Leu255Arg)

gnomAD frequency: 0.00001  dbSNP: rs878854482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226940 SCV000287317 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-10-09 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 255 of the JUP protein (p.Leu255Arg). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 239108). 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.
Fulgent Genetics, Fulgent Genetics RCV000226940 SCV002782090 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-11-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486782 SCV004240708 uncertain significance Cardiomyopathy 2023-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020787 SCV005018058 uncertain significance Cardiovascular phenotype 2023-10-15 criteria provided, single submitter clinical testing The p.L255R variant (also known as c.764T>G), located in coding exon 4 of the JUP gene, results from a T to G substitution at nucleotide position 764. The leucine at codon 255 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.

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