ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.21C>A (p.Cys7Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005116454 SCV005747351 pathogenic Proteosome-associated autoinflammatory syndrome 2024-03-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys7*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PSMB8-related conditions. For these reasons, this variant has been classified as Pathogenic.

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