Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018101 | SCV001179288 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-28 | criteria provided, single submitter | clinical testing | The p.A288T variant (also known as c.862G>A), located in coding exon 9 of the POLE gene, results from a G to A substitution at nucleotide position 862. The alanine at codon 288 is replaced by threonine, an amino acid with similar properties. In one study, this alteration was detected in 1/431 patients with microsatellite stable colorectal cancer who were tested for POLE mutations (Stenzinger A et al. Cancer Med, 2014 Dec;3:1527-38). 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. |