Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571518 | SCV000674673 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-09-07 | criteria provided, single submitter | clinical testing | The p.S389C variant (also known as c.1165A>T), located in coding exon 8 of the RAD50 gene, results from an A to T substitution at nucleotide position 1165. The serine at codon 389 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is poorly 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. |