Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000566548 | SCV000664975 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-03-02 | criteria provided, single submitter | clinical testing | The p.E881K variant (also known as c.2641G>A), located in coding exon 16 of the MSH2 gene, results from a G to A substitution at nucleotide position 2641. The glutamic acid at codon 881 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |