ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)

dbSNP: rs587778894
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) RCV000075144 SCV000106134 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Labcorp Genetics (formerly Invitae), Labcorp RCV001034673 SCV000253785 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-10-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 89672). This premature translational stop signal has been observed in individual(s) with lynch syndrome (PMID: 21642682). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln391*) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816).
MGZ Medical Genetics Center RCV002288566 SCV002579739 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2022-07-12 criteria provided, single submitter clinical testing
Human Genetics Bochum, Ruhr University Bochum RCV002288566 SCV002758593 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2022-05-24 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2, PS4

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.