Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018373 | SCV001179603 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-14 | criteria provided, single submitter | clinical testing | The p.D294N variant (also known as c.880G>A), located in coding exon 3 of the BLM gene, results from a G to A substitution at nucleotide position 880. The aspartic acid at codon 294 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, asparagine is the reference amino acid in other 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. |