Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000574608 | SCV000671838 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-01-11 | criteria provided, single submitter | clinical testing | The p.K122T variant (also known as c.365A>C), located in coding exon 3 of the RAD50 gene, results from an A to C substitution at nucleotide position 365. The amino acid change results in lysine to threonine at codon 122, 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. |