Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985959 | SCV001134699 | uncertain significance | not provided | 2018-09-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002454233 | SCV002738054 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-18 | criteria provided, single submitter | clinical testing | The p.L779V variant (also known as c.2335C>G), located in coding exon 21 of the POLE gene, results from a C to G substitution at nucleotide position 2335. The leucine at codon 779 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |