ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.(?_-1)_457+?del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196038 SCV000253770 pathogenic Lynch syndrome 2015-05-28 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 1-2 of the MSH6 gene. This deletion extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. However, this deletion removes the initiator methionine in exon 1, and results in the deletion of at least 152 amino acid residues of the MSH6 protein. Gross deletions in MSH6 are known to be pathogenic. Several deletions encompassing exons 1-2 have been reported in the literature in patients affected with Lynch syndrome (PMID: 17117178, 20591884, 22691310, 15942939). 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.