Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000222736 | SCV000274402 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-03-06 | criteria provided, single submitter | clinical testing | The p.D907N variant (also known as c.2719G>A) is located in coding exon 17 of the RAD50 gene. The aspartic acid at codon 907 is replaced by asparagine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 17. 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. |