Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010576 | SCV001170799 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-03 | criteria provided, single submitter | clinical testing | The p.V419L variant (also known as c.1255G>T), located in coding exon 13 of the POLE gene, results from a G to T substitution at nucleotide position 1255. The valine at codon 419 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly 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. |