ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.628_629del (p.Met210fs) (rs1553350966)

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 RCV000657461 SCV000779196 pathogenic not provided 2018-01-31 criteria provided, single submitter clinical testing This deletion of two nucleotides in MSH2 is denoted c.628_629delAT at the cDNA level and p.Met210GlyfsX21 (M210GfsX21) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AGAC[delAT]GGGGA. The deletion causes a frameshift which changes a Methionine to a Glycine at codon 210, and creates a premature stop codon at position 21 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Invitae RCV000527522 SCV000625444 pathogenic Hereditary nonpolyposis colon cancer 2017-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met210Glyfs*21) 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 not been reported in the literature in individuals with MSH2-related disease. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 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.