Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000583346 | SCV000689979 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001860087 | SCV002183794 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-08-09 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002329 | SCV004831074 | uncertain significance | Lynch syndrome | 2023-04-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000583346 | SCV005033359 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-11-14 | criteria provided, single submitter | clinical testing | The p.T457A variant (also known as c.1369A>G), located in coding exon 8 of the MSH2 gene, results from an A to G substitution at nucleotide position 1369. The threonine at codon 457 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In a massively parallel cell-based functional assay testing susceptibility to a DNA damaging agent, 6-thioguanine (6-TG), this variant was reported to be functionally deleterious (Jia X et al. Am J Hum Genet, 2021 Jan;108:163-175). 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. |