Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000568059 | SCV000667059 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-11-28 | criteria provided, single submitter | clinical testing | The p.K318E variant (also known as c.952A>G), located in coding exon 7 of the RAD50 gene, results from an A to G substitution at nucleotide position 952. The lysine at codon 318 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly 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. |