ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.698G>A (p.Arg233His)

gnomAD frequency: 0.00001  dbSNP: rs1304500107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319249 SCV001509988 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-06-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 233 of the JUP protein (p.Arg233His). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 1019764). 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.
Ambry Genetics RCV003166849 SCV003857614 uncertain significance Cardiovascular phenotype 2023-01-01 criteria provided, single submitter clinical testing The p.R233H variant (also known as c.698G>A), located in coding exon 3 of the JUP gene, results from a G to A substitution at nucleotide position 698. The arginine at codon 233 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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