ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.646del (p.Val216fs)

gnomAD frequency: 0.00002  dbSNP: rs777654978
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
Invitae RCV000684937 SCV000812400 pathogenic MOGS-congenital disorder of glycosylation 2021-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 565387). This variant has not been reported in the literature in individuals affected with MOGS-related conditions. This variant is present in population databases (rs777654978, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Val216Serfs*12) in the MOGS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MOGS are known to be pathogenic (PMID: 24716661, 26805780).
Revvity Omics, Revvity RCV000684937 SCV002023500 likely pathogenic MOGS-congenital disorder of glycosylation 2021-09-16 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.