ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.181C>T (p.Gln61Ter) (rs63750951)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219541 SCV000274919 pathogenic Hereditary cancer-predisposing syndrome 2018-02-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000219541 SCV000537675 pathogenic Hereditary cancer-predisposing syndrome 2016-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000202086 SCV000567927 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH2 c.181C>T at the cDNA level and p.Gln61Ter (Q61X) 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. This variant has been reported in multiple individuals and families with Lynch syndrome (Sarroca 2003, Sjursen 2010, Bonadona 2011). We consider MSH2 Gln61Ter to be pathogenic.
GenomeConnect, ClinGen RCV000076295 SCV000784702 not provided Lynch syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076295 SCV000107316 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV000524363 SCV000548182 pathogenic Hereditary nonpolyposis colon cancer 2018-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln61*) in the MSH2 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 observed in families affected with Lynch syndrome (PMID: 12660027, 21642682). ClinVar contains an entry for this variant (Variation ID: 90794). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202086 SCV000257153 pathogenic not provided no assertion criteria provided research

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.