ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1805G>A (p.Arg602His)

gnomAD frequency: 0.00001  dbSNP: rs909955430
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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 RCV001038552 SCV001202027 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-08-23 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 837260). 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 0.002%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 602 of the JUP protein (p.Arg602His).
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197490 SCV001368256 uncertain significance Naxos disease 2019-09-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Ambry Genetics RCV002409378 SCV002713190 uncertain significance Cardiovascular phenotype 2024-11-05 criteria provided, single submitter clinical testing The p.R602H variant (also known as c.1805G>A), located in coding exon 10 of the JUP gene, results from a G to A substitution at nucleotide position 1805. The arginine at codon 602 is replaced by histidine, an amino acid with highly similar 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.
GeneDx RCV004768799 SCV005379601 uncertain significance not provided 2023-11-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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