Submissions for variant NM_148919.4(PSMB8):c.732C>T (p.Gly244=)

gnomAD frequency: 0.00175  dbSNP: rs78909544

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003762849	SCV000762937	benign	Proteosome-associated autoinflammatory syndrome	2024-01-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000641296	SCV001317097	likely benign	Proteasome-associated autoinflammatory syndrome 1	2018-03-06	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263877	SCV002542420	likely benign	Autoinflammatory syndrome	2020-08-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905733	SCV004724887	likely benign	PSMB8-related condition	2019-08-09	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).