Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059616 | SCV001224243 | pathogenic | ALG8 congenital disorder of glycosylation | 2019-03-06 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ALG8 are known to be pathogenic (PMID: 19862844). This variant has not been reported in the literature in individuals with ALG8-related conditions. This sequence change creates a premature translational stop signal (p.Pro255Serfs*53) in the ALG8 gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV002505624 | SCV002813938 | likely pathogenic | ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts | 2022-03-12 | criteria provided, single submitter | clinical testing |