ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.388C>T (p.Gln130Ter) (rs1060501989)

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
GeneDx RCV000657785 SCV000779538 pathogenic not provided 2018-05-02 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.388C>T at the cDNA level and p.Gln130Ter (Q130X) 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.
Invitae RCV000471483 SCV000548129 pathogenic Lynch syndrome 2016-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 130 (p.Gln130*) of the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. This variant has been reported in individuals affected with MSH2-related disease in the Universal Mutation Database (PMID: 23729658). 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.