Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002426381 | SCV002740769 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-31 | criteria provided, single submitter | clinical testing | The p.R87S variant (also known as c.261A>C), located in coding exon 3 of the CDC73 gene, results from an A to C substitution at nucleotide position 261. The arginine at codon 87 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |