ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1255C>G (p.Gln419Glu) (rs762814792)

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
Invitae RCV000168366 SCV000219056 uncertain significance Lynch syndrome 2014-12-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 419 of the MSH6 protein (p.Gln419Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This sequence change has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.
Color RCV000582392 SCV000690190 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582392 SCV001170795 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-08 criteria provided, single submitter clinical testing Insufficient evidence

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.