ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer) (rs876661193)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000218334 SCV000279759 pathogenic not provided 2016-01-11 criteria provided, single submitter clinical testing This insertion of 31 nucleotides in MSH6 is denoted c.2354_2355ins31 at the cDNA level and p.His785GlnfsX10 (H785QfsX10) at the protein level. The surrounding sequence is ACCA[ins31]TTAT. The insertion causes a frameshift, which changes a Histidine to a Glutamine at codon 785, and creates a premature stop codon at position 10 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.

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.