ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2446C>T (p.Gln816Ter) (rs63749917)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076476 SCV000107505 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV000076476 SCV000548269 pathogenic Lynch syndrome 2016-06-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 816 (p.Gln816*) of the MSH2 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in MSH2 are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with Lynch syndrome (PMID: 12624141, 15996210). 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.