ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.568G>C (p.Val190Leu)

dbSNP: rs370143312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530383 SCV000645744 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-11-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 468757). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 190 of the JUP protein (p.Val190Leu). This variant is present in population databases (rs370143312, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with JUP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Fulgent Genetics, Fulgent Genetics RCV000530383 SCV002785280 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302854 SCV003997553 uncertain significance Cardiovascular phenotype 2023-05-17 criteria provided, single submitter clinical testing The p.V190L variant (also known as c.568G>C), located in coding exon 3 of the JUP gene, results from a G to C substitution at nucleotide position 568. The valine at codon 190 is replaced by leucine, an amino acid with highly similar properties. This alteration has been reported in a sudden unexplained death cohort (Santori M et al. Arch Dis Child, 2015 Oct;100:952-6). 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.

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