ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.941C>G (p.Ala314Gly)

dbSNP: rs201214805
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171960 SCV000050950 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171960 SCV002588186 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002372073 SCV002686465 uncertain significance Cardiovascular phenotype 2022-06-30 criteria provided, single submitter clinical testing The p.A314G variant (also known as c.941C>G), located in coding exon 5 of the JUP gene, results from a C to G substitution at nucleotide position 941. The alanine at codon 314 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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 RCV003765079 SCV004606469 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 314 of the JUP protein (p.Ala314Gly). This variant is present in population databases (rs201214805, gnomAD 0.0009%). 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: 191673). 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 glycine 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.

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