ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg)

dbSNP: rs2073313909
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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 RCV001036797 SCV001200180 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2019-02-25 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1094 of the DSG2 protein (p.Gly1094Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DSG2-related conditions. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV003160218 SCV003855991 uncertain significance Cardiovascular phenotype 2022-12-01 criteria provided, single submitter clinical testing The p.G1094R variant (also known as c.3280G>C), located in coding exon 15 of the DSG2 gene, results from a G to C substitution at nucleotide position 3280. The glycine at codon 1094 is replaced by arginine, an amino acid with dissimilar 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.
All of Us Research Program, National Institutes of Health RCV004004704 SCV004825688 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-08-15 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 1094 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSG2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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