ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)

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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 RCV003380183 SCV004096315 uncertain significance Cardiovascular phenotype 2023-08-29 criteria provided, single submitter clinical testing The p.D721G variant (also known as c.2162A>G), located in coding exon 13 of the JUP gene, results from an A to G substitution at nucleotide position 2162. The aspartic acid at codon 721 is replaced by glycine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003778134 SCV004597272 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-06-23 criteria provided, single submitter clinical testing 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. 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 glycine, which is neutral and non-polar, at codon 721 of the JUP protein (p.Asp721Gly).

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