ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2285C>A (p.Ala762Glu)

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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 RCV002446148 SCV002736279 uncertain significance Cardiovascular phenotype 2020-03-28 criteria provided, single submitter clinical testing The p.A762E variant (also known as c.2285C>A), located in coding exon 14 of the DSG2 gene, results from a C to A substitution at nucleotide position 2285. The alanine at codon 762 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is not well conserved in available 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101197 SCV003465670 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-09-10 criteria provided, single submitter clinical testing 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 not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 762 of the DSG2 protein (p.Ala762Glu).

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