ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1744G>A (p.Glu582Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003301466 SCV003996700 uncertain significance Cardiovascular phenotype 2023-04-09 criteria provided, single submitter clinical testing The p.E582K variant (also known as c.1744G>A), located in coding exon 12 of the DSG2 gene, results from a G to A substitution at nucleotide position 1744. The glutamic acid at codon 582 is replaced by lysine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003631305 SCV004525792 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-01-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 582 of the DSG2 protein (p.Glu582Lys). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DSG2 protein function. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (rs745614134, gnomAD 0.01%).

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