Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001956103 | SCV002247068 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2021-07-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ALG6-related conditions. This variant is present in population databases (rs759308812, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Gln41*) in the ALG6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALG6 are known to be pathogenic (PMID: 19862844). |