Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014491 | SCV001175205 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-16 | criteria provided, single submitter | clinical testing | The p.K721Q variant (also known as c.2161A>C), located in coding exon 13 of the RAD50 gene, results from an A to C substitution at nucleotide position 2161. The lysine at codon 721 is replaced by glutamine, an amino acid with similar properties. This amino acid position is not 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. |