ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.826dup (p.Ile276fs)

dbSNP: rs878853792
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 RCV000231231 SCV000284078 pathogenic Lynch syndrome 2015-11-27 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 10 of the MLH1 mRNA (c.826dupA), causing a frameshift at codon 276. This creates a premature translational stop signal (p.Ile276Asnfs*31) and is expected to result in an absent or disrupted protein product. Truncating variants in MLH1 are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with Lynch syndrome (PMID: 18809606). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001388953 SCV001590133 pathogenic Hereditary nonpolyposis colorectal neoplasms 2015-11-27 criteria provided, single submitter clinical testing Truncating variants in MLH1 are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with Lynch syndrome (PMID: 18809606). For these reasons, this variant has been classified as Pathogenic. This sequence change inserts 1 nucleotide in exon 10 of the MLH1 mRNA (c.826dupA), causing a frameshift at codon 276. This creates a premature translational stop signal (p.Ile276Asnfs*31) and is expected to result in an absent or disrupted protein product.

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.