ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1241G>A (p.Trp414Ter) (rs587779914)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506619 SCV000604280 pathogenic not specified 2017-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491836 SCV000580192 pathogenic Hereditary cancer-predisposing syndrome 2014-07-15 criteria provided, single submitter clinical testing
Color RCV000491836 SCV000905448 pathogenic Hereditary cancer-predisposing syndrome 2018-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000115372 SCV000149281 pathogenic not provided 2016-04-28 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.1241G>A at the cDNA level and p.Trp414Ter (W414X) at the protein level. The substitution creates a nonsense variant, changing a Tryptophan to a premature stop codon (TGG>TAG). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been observed in at least one individual with endometrial cancer (Susswein 2015) and it is considered pathogenic.
Invitae RCV000524659 SCV000624631 pathogenic Hereditary nonpolyposis colon cancer 2017-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp414*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). 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.