ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.533C>T (p.Ala178Val)

gnomAD frequency: 0.00002  dbSNP: rs781976753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001876577 SCV002121902 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-10-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 178 of the JUP protein (p.Ala178Val). This variant is present in population databases (rs781976753, gnomAD 0.003%). 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: 1355773). 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.
Ambry Genetics RCV002343895 SCV002643257 uncertain significance Cardiovascular phenotype 2023-12-26 criteria provided, single submitter clinical testing The p.A178V variant (also known as c.533C>T), located in coding exon 3 of the JUP gene, results from a C to T substitution at nucleotide position 533. The alanine at codon 178 is replaced by valine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV001876577 SCV002776169 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-12-21 criteria provided, single submitter clinical testing

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