ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.1799_1804delinsGCTCGGTCCAG (p.Leu600fs) (rs1572919848)

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
Invitae RCV000819105 SCV000959748 uncertain significance Congenital disorder of glycosylation type 2B 2018-10-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MOGS gene (p.Leu600Argfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 238 amino acids of the MOGS protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MOGS-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant disrupts a region of the protein in which other variant (p.Phe652Leu) has been observed in an affected individual (PMID: 10788335). This suggests that this may be a clinically significant region of the MOGS protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.