Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018102 | SCV001179289 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-08 | criteria provided, single submitter | clinical testing | The p.A288P variant (also known as c.862G>C), located in coding exon 9 of the POLE gene, results from a G to C substitution at nucleotide position 862. The alanine at codon 288 is replaced by proline, an amino acid with highly 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. |
Center for Genomic Medicine, |
RCV003321775 | SCV004027373 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |