Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002428917 | SCV002742206 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-10-30 | criteria provided, single submitter | clinical testing | The p.P895H variant (also known as c.2684C>A), located in coding exon 16 of the MSH2 gene, results from a C to A substitution at nucleotide position 2684. The proline at codon 895 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly 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. |