ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1359A>G (p.Lys453=) (rs864622147)

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
Invitae RCV000206214 SCV000259462 uncertain significance Lynch syndrome 2015-07-17 criteria provided, single submitter clinical testing This sequence change affects codon 453 of the MSH6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MSH6 protein. This variant is not present in population databases and has not been published in the literature. Algorithms developed to predict the effect of silent changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001011160 SCV001171450 likely benign Hereditary cancer-predisposing syndrome 2019-08-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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.