ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2104-6T>C

dbSNP: rs2148521621
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001454810 SCV001658549 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-02-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007053 SCV004834350 uncertain significance Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the -6 position of intron 18/18 of the MLH1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has been observed in an individual affected with colorectal with intact mismatch repair proteins, as well as in two control individuals (PMID: 30324682). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.