ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003060967 SCV003454814 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 637 of the JUP protein (p.Arg637Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 2147576). 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 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 RCV003294442 SCV003996297 uncertain significance Cardiovascular phenotype 2023-06-15 criteria provided, single submitter clinical testing The p.R637L variant (also known as c.1910G>T), located in coding exon 10 of the JUP gene, results from a G to T substitution at nucleotide position 1910. The arginine at codon 637 is replaced by leucine, an amino acid with dissimilar 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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