Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000565456 | SCV000662225 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-15 | criteria provided, single submitter | clinical testing | The p.T756A variant (also known as c.2266A>G), located in coding exon 14 of the MSH2 gene, results from an A to G substitution at nucleotide position 2266. The threonine at codon 756 is replaced by alanine, an amino acid with similar properties. This variant was reported in 0/60,466 breast cancer cases and in 1/53,461 controls (Dorling et al. N Engl J Med. 2021 02;384:428-439). 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759112 | SCV000888218 | uncertain significance | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000793685 | SCV000933050 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-08-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000849 | SCV004842700 | uncertain significance | Lynch syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing |