ClinVar Miner

Submissions for variant NM_001354621.1(MLH1):c.-139-2736_-139-2735del (rs63750034)

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) RCV000075889 SCV000106905 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000075889 SCV000543547 pathogenic Lynch syndrome 2016-11-14 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 10 of the MLH1 mRNA (c.859_860delAA), causing a frameshift at codon 287. This creates a premature translational stop signal (p.Asn287Hisfs*19) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic. This particular variant has been reported in the literature in individuals with colorectal cancer (PMID: 15855432, 21868491, 21788563). 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.