ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.842C>G (p.Ser281Ter) (rs63749991)

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
Ambry Genetics RCV000491522 SCV000580389 pathogenic Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000205315 SCV000260058 pathogenic Lynch syndrome 2015-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 281 (p.Ser281*). 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 individuals affected with Lynch syndrome (PMID: 17653898, 21311894). In each of the affected individuals, the tumors were reported as MSI-H and negative for MSH2 and MSH6 proteins. 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.