Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017212 | SCV001178253 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-11 | criteria provided, single submitter | clinical testing | The p.D358V variant (also known as c.1073A>T), located in coding exon 8 of the RAD50 gene, results from an A to T substitution at nucleotide position 1073. The aspartic acid at codon 358 is replaced by valine, an amino acid with highly dissimilar properties. 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. |