Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012213 | SCV001172639 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-05-10 | criteria provided, single submitter | clinical testing | The p.M525V variant (also known as c.1573A>G), located in coding exon 10 of the RAD50 gene, results from an A to G substitution at nucleotide position 1573. The methionine at codon 525 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |