Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000709260 | SCV000838691 | uncertain significance | Familial colorectal cancer | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343583 | SCV002620264 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-24 | criteria provided, single submitter | clinical testing | The p.E1241A variant (also known as c.3722A>C), located in coding exon 30 of the POLE gene, results from an A to C substitution at nucleotide position 3722. The glutamic acid at codon 1241 is replaced by alanine, an amino acid with dissimilar 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. |