ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.3733C>T (p.Gln1245Ter)

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
Ambry Genetics RCV004049789 SCV002622040 uncertain significance not specified 2020-11-02 criteria provided, single submitter clinical testing The p.Q1245* variant (also known as c.3733C>T), located in coding exon 7 of the MLH3 gene, results from a C to T substitution at nucleotide position 3733. This changes the amino acid from a glutamine to a stop codon within coding exon 7. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, the gene-disease association for MLH3 is limited. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008540 SCV005635755 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-06-18 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.