ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1266C>T (p.Gly422=) (rs63750791)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218731 SCV000274501 likely benign Hereditary cancer-predisposing syndrome 2015-03-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000524230 SCV000284014 benign Hereditary nonpolyposis colorectal neoplasms 2020-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001355583 SCV000530730 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15996210, 18726168)
Color Health, Inc RCV000218731 SCV000689798 benign Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing
Counsyl RCV000662538 SCV000785115 likely benign Lynch syndrome II 2017-04-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000662538 SCV001308771 uncertain significance Lynch syndrome II 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001355583 SCV001550508 uncertain significance not provided no assertion criteria provided 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.