ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2624T>C (p.Met875Thr) (rs774774596)

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 RCV000164528 SCV000215182 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000205577 SCV000260773 uncertain significance Hereditary nonpolyposis colon cancer 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 875 of the MSH6 protein (p.Met875Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs774774596, ExAC 0.01%). This variant has been observed in an individual affected with acute myeloid leukemia (PMID: 26580448). ClinVar contains an entry for this variant (Variation ID: 185159). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000164528 SCV000685302 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-25 criteria provided, single submitter clinical testing
Counsyl RCV000662485 SCV000784985 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2017-03-22 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.