ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2154_2155del (p.Ile719fs)

dbSNP: rs63750971
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075558 SCV000106555 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon with functional domain
Ambry Genetics RCV002426630 SCV002727016 pathogenic Hereditary cancer-predisposing syndrome 2020-03-27 criteria provided, single submitter clinical testing The c.2154_2155delCA pathogenic mutation, located in coding exon 19 of the MLH1 gene, results from a deletion of two nucleotides at nucleotide positions 2154 to 2155, causing a translational frameshift with a predicted alternate stop codon (p.I719Cfs*3). This variant has been reported in one Portuguese family meeting Amsterdam I criteria and in an individual diagnosed with MSI-H colorectal cancer showing loss of MLH1 on immunohistochemistry and having a family history of colorectal cancer (Isidro G et al. Hum. Mutat., 2003 Nov;22:419-20; Bonnet D et al. Dig Liver Dis, 2012 Jun;44:515-22).This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003451112 SCV004189962 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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.