Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689452 | SCV000817103 | pathogenic | Congenital disorder of glycosylation, type IIq | 2017-06-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COG2 are known to be pathogenic (PMID: 24784932). This variant has not been reported in the literature in individuals with a COG2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile146Asnfs*8) in the COG2 gene. It is expected to result in an absent or disrupted protein product. |