Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003762021 | SCV002157064 | pathogenic | Proteosome-associated autoinflammatory syndrome | 2021-01-17 | 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 with PSMB8-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln161*) in the PSMB8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PSMB8 are known to be pathogenic (PMID: 26524591). |
Genome Diagnostics Laboratory, |
RCV002264415 | SCV002542824 | likely pathogenic | Autoinflammatory syndrome | 2020-04-01 | criteria provided, single submitter | clinical testing |