Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021937 | SCV001183615 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-02-27 | criteria provided, single submitter | clinical testing | The p.R138P variant (also known as c.413G>C), located in coding exon 4 of the RAD50 gene, results from a G to C substitution at nucleotide position 413. The arginine at codon 138 is replaced by proline, an amino acid with dissimilar properties. 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. |