Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619980 | SCV000735759 | uncertain significance | Cardiovascular phenotype | 2018-08-29 | criteria provided, single submitter | clinical testing | The p.I73M variant (also known as c.219A>G), located in coding exon 4 of the DSG2 gene, results from an A to G substitution at nucleotide position 219. The isoleucine at codon 73 is replaced by methionine, an amino acid with highly similar properties. Another alteration affecting this amino acid, p.I73V (c.217A>G), was detected in an arrhythmogenic right ventricular cardiomyopathy (ARVC) cohort, but clinical details were not provided (Bhuiyan ZA. Circ Cardiovasc Genet. 2009;2(5):418-27). This amino acid position is 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. |