Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011252 | SCV001171551 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-03 | criteria provided, single submitter | clinical testing | The p.G460S variant (also known as c.1378G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 1378. The glycine at codon 460 is replaced by serine, 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. |
All of Us Research Program, |
RCV004004498 | SCV004825918 | uncertain significance | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |