ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter)

dbSNP: rs2127377117
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Total submissions: 2
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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, The Hospital for Sick Children RCV002264415 SCV002542824 likely pathogenic Autoinflammatory syndrome 2020-04-01 criteria provided, single submitter clinical testing

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