Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016241 | SCV001177175 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-13 | criteria provided, single submitter | clinical testing | The p.R903G variant (also known as c.2707A>G), located in coding exon 16 of the RAD50 gene, results from an A to G substitution at nucleotide position 2707. The arginine at codon 903 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction by BayesDel for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |