Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002430551 | SCV002731145 | uncertain significance | Cardiovascular phenotype | 2020-08-14 | criteria provided, single submitter | clinical testing | The p.D361N variant (also known as c.1081G>A), located in coding exon 6 of the SNTA1 gene, results from a G to A substitution at nucleotide position 1081. The aspartic acid at codon 361 is replaced by asparagine, an amino acid with highly similar 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. |