ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2179G>A (p.Gly727Ser)

gnomAD frequency: 0.00002  dbSNP: rs755555966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183679 SCV001349474 uncertain significance Cardiomyopathy 2024-03-06 criteria provided, single submitter clinical testing This missense variant replaces glycine with serine at codon 727 of the DSG2 protein. Computational prediction tool 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 performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/249446 chromosomes 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.
Ambry Genetics RCV003163433 SCV003856000 uncertain significance Cardiovascular phenotype 2023-01-15 criteria provided, single submitter clinical testing The p.G727S variant (also known as c.2179G>A), located in coding exon 14 of the DSG2 gene, results from a G to A substitution at nucleotide position 2179. The glycine at codon 727 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.
All of Us Research Program, National Institutes of Health RCV004008403 SCV004821762 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-08-15 criteria provided, single submitter clinical testing This missense variant replaces glycine with serine at codon 727 of the DSG2 protein. Computational prediction tool suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <=0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/249446 chromosomes 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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