ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.119del (p.Cys39_Leu40insTer)

dbSNP: rs587778896
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) RCV000075148 SCV000106139 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Labcorp Genetics (formerly Invitae), Labcorp RCV001034659 SCV000284009 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu40*) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 89676). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 21778331, 28874130).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005357458 SCV005914574 pathogenic Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 2020-02-05 criteria provided, single submitter clinical testing

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.