ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser) (rs773666300)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620559 SCV000737806 uncertain significance Cardiovascular phenotype 2016-12-07 criteria provided, single submitter clinical testing The p.G598S variant (also known as c.1792G>A), located in coding exon 12 of the DSG2 gene, results from a G to A substitution at nucleotide position 1792. The glycine at codon 598 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, serine is the reference amino acid in other 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 RCV000818736 SCV000959365 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 598 of the DSG2 protein (p.Gly598Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs773666300, ExAC 0.02%). This variant has not been reported in the literature in individuals with DSG2-related disease. ClinVar contains an entry for this variant (Variation ID: 519359). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color Health, Inc RCV001190209 SCV001357651 uncertain significance Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing

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