ClinVar Miner

Submissions for variant NC_000006.11:g.(?_32810848)_(32811339_?)del

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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 RCV004578645 SCV005066146 likely pathogenic Proteosome-associated autoinflammatory syndrome 2023-03-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PSMB8-related conditions. This variant results in the deletion of part of exon 2 (c.147+288_227delins59) of the PSMB8 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PSMB8 are known to be pathogenic (PMID: 26524591). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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