ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.791-5T>G

dbSNP: rs267607788
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075865 SCV000106882 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Variant causes splicing aberration: full inactivation of variant allele.
Color Diagnostics, LLC DBA Color Health RCV000579445 SCV000684869 likely pathogenic Hereditary cancer-predisposing syndrome 2019-04-03 criteria provided, single submitter clinical testing
Mendelics RCV000075865 SCV000838004 pathogenic Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262553 SCV001440474 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001379645 SCV001577481 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-05-26 criteria provided, single submitter clinical testing This variant has been observed in individuals with Lynch syndrome (PMID: 16395668, 18561205; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the MLH1 gene. It does not directly change the encoded amino acid sequence of the MLH1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. ClinVar contains an entry for this variant (Variation ID: 90374). For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 16395668, 18561205, 26761715).
Human Genetics Bochum, Ruhr University Bochum RCV001262553 SCV002758613 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2021-11-26 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2, PS3
CeGaT Center for Human Genetics Tuebingen RCV002512058 SCV002821174 likely pathogenic not provided 2022-10-01 criteria provided, single submitter clinical testing MLH1: PM2, PS3:Moderate, PP4, PS4:Supporting

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.