ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2194G>A (p.Gly732Ser)

gnomAD frequency: 0.00002  dbSNP: rs781885294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039374 SCV001202904 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 732 of the JUP protein (p.Gly732Ser). This variant is present in population databases (rs781885294, gnomAD 0.01%). 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: 837932). 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 RCV002427495 SCV002728660 uncertain significance Cardiovascular phenotype 2022-10-11 criteria provided, single submitter clinical testing The p.G732S variant (also known as c.2194G>A), located in coding exon 13 of the JUP gene, results from a G to A substitution at nucleotide position 2194. The glycine at codon 732 is replaced by serine, 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.
Fulgent Genetics, Fulgent Genetics RCV001039374 SCV002781647 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-10-13 criteria provided, single submitter clinical testing

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