Total submissions: 2
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, |
RCV000684937 | SCV002023500 | likely pathogenic | MOGS-congenital disorder of glycosylation | 2021-09-16 | criteria provided, single submitter | clinical testing |