ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.486T>A (p.Asp162Glu)

dbSNP: rs756239722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431761 SCV001634520 likely benign Arrhythmogenic right ventricular dysplasia 10 2019-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160732 SCV003856005 uncertain significance Cardiovascular phenotype 2023-02-13 criteria provided, single submitter clinical testing The p.D162E variant (also known as c.486T>A), located in coding exon 5 of the DSG2 gene, results from a T to A substitution at nucleotide position 486. The aspartic acid at codon 162 is replaced by glutamic acid, an amino acid with highly 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.

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