ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002412718 SCV002716975 uncertain significance Cardiovascular phenotype 2023-11-28 criteria provided, single submitter clinical testing The p.A612G variant (also known as c.1835C>G), located in coding exon 10 of the JUP gene, results from a C to G substitution at nucleotide position 1835. The alanine at codon 612 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Invitae RCV003100878 SCV003454060 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-03-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 612 of the JUP protein (p.Ala612Gly).

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