ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.238G>A (p.Ala80Thr)

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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 RCV002932907 SCV003263880 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-07-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 80 of the JUP protein (p.Ala80Thr). This variant is not present in population databases (gnomAD no frequency). 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: 2054695). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004067049 SCV003902514 uncertain significance Cardiovascular phenotype 2024-06-15 criteria provided, single submitter clinical testing The p.A80T variant (also known as c.238G>A), located in coding exon 2 of the JUP gene, results from a G to A substitution at nucleotide position 238. The alanine at codon 80 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526211 SCV005040456 uncertain significance not specified 2024-03-03 criteria provided, single submitter clinical testing

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