Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001202775 | SCV001373901 | pathogenic | COG1 congenital disorder of glycosylation | 2019-09-09 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COG1-related conditions. Loss-of-function variants in COG1 are known to be pathogenic (PMID: 16537452). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp476*) in the COG1 gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV001202775 | SCV002792829 | likely pathogenic | COG1 congenital disorder of glycosylation | 2022-03-19 | criteria provided, single submitter | clinical testing |