ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.816del (p.Arg273fs)

dbSNP: rs2125837110
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
Invitae RCV001927712 SCV002173337 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-04-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MLH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg273Glufs*4) 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).
Ambry Genetics RCV002423009 SCV002681805 pathogenic Hereditary cancer-predisposing syndrome 2022-06-20 criteria provided, single submitter clinical testing The c.816delG pathogenic mutation, located in coding exon 10 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 816, causing a translational frameshift with a predicted alternate stop codon (p.R273Efs*4). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Fulgent Genetics, Fulgent Genetics RCV002484405 SCV002780443 likely pathogenic Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 2021-10-14 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003456257 SCV004186472 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-18 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.