Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002428573 | SCV002744737 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-11-21 | criteria provided, single submitter | clinical testing | The p.E878K variant (also known as c.2632G>A), located in coding exon 15 of the MSH2 gene, results from a G to A substitution at nucleotide position 2632. The glutamic acid at codon 878 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved through reptiles but not in all available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. In addition, this alteration is predicted to be benign by MAPP-MMR in silico analyses (Chao EC et al. Hum. Mutat. 2008 Jun;29:852-60). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |