ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1969C>T (p.Gln657Ter) (rs1114167709)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491722 SCV000580149 pathogenic Hereditary cancer-predisposing syndrome 2018-03-19 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000494682 SCV000582359 pathogenic not provided 2015-08-26 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH6 c.1969C>T at the cDNA level and p.Gln657Ter (Q657X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000494682 SCV001134403 pathogenic not provided 2019-06-13 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Invitae RCV001204100 SCV001375291 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln657*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 428316). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.

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.