ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1908G>A (p.Leu636=) (rs1800145)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562324 SCV000662027 likely benign Hereditary cancer-predisposing syndrome 2016-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign),No disease association in small case-control study
Color RCV000562324 SCV000684782 likely benign Hereditary cancer-predisposing syndrome 2015-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000420328 SCV000513630 likely benign not specified 2017-08-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000590489 SCV000696135 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.1908G>A (p.Leu636Leu) variant causes a synonymous change with 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts the removal of ESE binding sites, although these predictions have yet to be functionally assessed. The variant of interest has not been observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a Variant of Uncertain Significance (VUS)- possibly benign."
Invitae RCV000458139 SCV000555988 likely benign Hereditary nonpolyposis colon cancer 2017-08-10 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.