ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2266A>G (p.Thr756Ala)

dbSNP: rs750646335
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
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, National Institutes of Health RCV004000849 SCV004842700 uncertain significance Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.