Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018703 | SCV001179970 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-21 | criteria provided, single submitter | clinical testing | The p.R1038I variant (also known as c.3113G>T), located in coding exon 20 of the RAD50 gene, results from a G to T substitution at nucleotide position 3113. The arginine at codon 1038 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is 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. |