ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3067G>T (p.Glu1023Ter) (rs267608059)

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
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074801 SCV000108012 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
University of Washington Department of Laboratory Medicine,University of Washington RCV000074801 SCV000266094 pathogenic Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491450 SCV000580306 pathogenic Hereditary cancer-predisposing syndrome 2015-10-27 criteria provided, single submitter clinical testing
Invitae RCV000687014 SCV000814562 pathogenic Hereditary nonpolyposis colon cancer 2018-03-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1023*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with Lynch syndrome (PMID: 18566915, 21836479, 22495361) and in an individual with endometrial and breast cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 89336). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.

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.