Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002423528 | SCV002723448 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-04 | criteria provided, single submitter | clinical testing | The p.E658A variant (also known as c.1973A>C), located in coding exon 12 of the MSH2 gene, results from an A to C substitution at nucleotide position 1973. The glutamic acid at codon 658 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. In addition, this alteration is predicted to be borderline deleterious 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. |