Submissions for variant NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser)

gnomAD frequency: 0.00770  dbSNP: rs17220206

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003762780	SCV000640469	benign	Proteosome-associated autoinflammatory syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000528249	SCV001318893	benign	Proteasome-associated autoinflammatory syndrome 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002261107	SCV002542813	benign	Autoinflammatory syndrome	2022-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573158	SCV004161458	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PSMB8: PM5, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528820	SCV001741220	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573158	SCV001798590	likely benign	not provided		no assertion criteria provided	clinical testing