ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3399T>C (p.Thr1133=) (rs61748084)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162415 SCV000212754 likely benign Hereditary cancer-predisposing syndrome 2014-08-26 criteria provided, single submitter clinical testing
Color RCV000162415 SCV000690349 likely benign Hereditary cancer-predisposing syndrome 2016-04-04 criteria provided, single submitter clinical testing
Counsyl RCV000409777 SCV000487809 likely benign Hereditary nonpolyposis colorectal cancer type 5 2015-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000610158 SCV000729047 benign not specified 2015-05-21 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 RCV000610158 SCV000919734 uncertain significance not specified 2018-03-01 criteria provided, single submitter clinical testing Variant summary: MSH6 c.3399T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.2e-05 in 277182 control chromosomes. This frequency is not higher than expected for a pathogenic variant in MSH6 causing Lynch Syndrome (3.2e-05 vs 0.00014), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.3399T>C in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000458051 SCV000561535 likely benign Hereditary nonpolyposis colon cancer 2017-10-19 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.