ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2334C>A (p.Cys778Ter) (rs63750618)

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
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076458 SCV000107487 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
GeneDx RCV000115517 SCV000149426 pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH2 c.2334C>A at the cDNA level and p.Cys778Ter (C778X) at the protein level. The substitution creates a nonsense variant, changing a Cysteine to a premature stop codon (TGC>TGA), 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 association with Lynch syndrome (Viel 1998). We consider this variant to be pathogenic.
Ambry Genetics RCV000491112 SCV000580388 pathogenic Hereditary cancer-predisposing syndrome 2017-12-21 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000663148 SCV000786298 pathogenic Lynch syndrome I 2018-04-05 criteria provided, single submitter clinical testing

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.