ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.109G>A (p.Val37Ile)

gnomAD frequency: 0.00006  dbSNP: rs150769772
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038226 SCV001201689 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-06-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 37 of the JUP protein (p.Val37Ile). This variant is present in population databases (rs150769772, 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: 836987). 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.
GeneDx RCV001759732 SCV001985320 uncertain significance not provided 2021-04-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 836987; Landrum et al., 2016)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799029 SCV002043151 uncertain significance Cardiomyopathy 2020-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454277 SCV002738285 uncertain significance Cardiovascular phenotype 2024-03-04 criteria provided, single submitter clinical testing The p.V37I variant (also known as c.109G>A), located in coding exon 1 of the JUP gene, results from a G to A substitution at nucleotide position 109. The valine at codon 37 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV001038226 SCV002788324 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754677 SCV005349308 uncertain significance JUP-related disorder 2024-09-21 no assertion criteria provided clinical testing The JUP c.109G>A variant is predicted to result in the amino acid substitution p.Val37Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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