Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000246603 | SCV000319637 | uncertain significance | Cardiovascular phenotype | 2022-07-15 | criteria provided, single submitter | clinical testing | The p.T859A variant (also known as c.2575A>G), located in coding exon 15 of the DSG2 gene, results from an A to G substitution at nucleotide position 2575. The threonine at codon 859 is replaced by alanine, an amino acid with some similar properties. This amino acid position is poorly conserved in available vertebrate species, and alanine is the reference amino acid in four 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 variant remains unclear. |
Fulgent Genetics, |
RCV002500950 | SCV002791962 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB | 2021-10-05 | criteria provided, single submitter | clinical testing |