ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.889C>T (p.Arg297Trp)

gnomAD frequency: 0.00009  dbSNP: rs775001669
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000700689 SCV000829456 likely benign Colorectal cancer, hereditary nonpolyposis, type 7 2023-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026523 SCV002687445 uncertain significance not specified 2024-11-23 criteria provided, single submitter clinical testing The p.R297W variant (also known as c.889C>T), located in coding exon 1 of the MLH3 gene, results from a C to T substitution at nucleotide position 889. The arginine at codon 297 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005010708 SCV005633323 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-04-08 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.