Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000574457 | SCV000663726 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-01-13 | criteria provided, single submitter | clinical testing | The p.S451R variant (also known as c.1351A>C), located in coding exon 9 of the RAD50 gene, results from an A to C substitution at nucleotide position 1351. The serine at codon 451 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly 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. |