ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.952_962del (p.Glu318fs) (rs1064793185)

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 RCV000478431 SCV000565212 pathogenic not provided 2014-10-14 criteria provided, single submitter clinical testing This deletion of 11 nucleotides in MSH6 is denoted c.952_962del11 at the cDNA level and p.Glu318SerfsX7 (E318SfsX7) at the protein level. The surrounding sequence is GAAG[del11]AGCC. The deletion causes a frameshift, which changes a Glutamic Acid to a Serine at codon 318, and creates a premature stop codon at position 7 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 MSH6 Glu318SerfsX7 to be pathogenic.
Institute of Human Genetics,University of Wuerzburg RCV000490670 SCV000579343 pathogenic Hereditary nonpolyposis colorectal carcinoma no assertion criteria provided 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.