ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.406G>C (p.Asp136His)

dbSNP: rs782392706
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183484 SCV000235944 likely pathogenic not provided 2013-11-20 criteria provided, single submitter clinical testing p.Asp136His (GAT>CAT): c.406 G>C in exon 3 of the JUP gene (NM_002230.2). The Asp136His variant in the JUP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Asp136His results in a non-conservative amino acid substitution of a negatively charged Aspartic acid to a positively charged Histidine at a position that is conserved across species. In silico analysis predicts Asp136His is probably damaging to the protein structure/function. Furthermore, the Asp136His variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in ARRHYTHMIA panel(s).
Invitae RCV001056315 SCV001220753 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-07-03 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: 201810). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 136 of the JUP protein (p.Asp136His).
Ambry Genetics RCV004020217 SCV005018397 uncertain significance Cardiovascular phenotype 2024-01-11 criteria provided, single submitter clinical testing The p.D136H variant (also known as c.406G>C), located in coding exon 2 of the JUP gene, results from a G to C substitution at nucleotide position 406. The aspartic acid at codon 136 is replaced by histidine, an amino acid with 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.

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