ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.501C>T (p.Leu167=)

gnomAD frequency: 0.00224  dbSNP: rs11540143
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003762782 SCV000640473 benign Proteosome-associated autoinflammatory syndrome 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000543389 SCV001317098 likely benign Proteasome-associated autoinflammatory syndrome 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago RCV001821549 SCV002069820 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263774 SCV002542398 benign Autoinflammatory syndrome 2022-05-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702798 SCV004161457 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PSMB8: BP4
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702798 SCV001932530 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702798 SCV001969797 likely benign not provided no assertion criteria provided clinical testing

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