ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg)

gnomAD frequency: 0.02384  dbSNP: rs114772012
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272614 SCV000462144 benign Proteasome-associated autoinflammatory syndrome 1 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV003761941 SCV000640471 benign Proteosome-associated autoinflammatory syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261080 SCV002542816 benign Autoinflammatory syndrome 2022-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001572723 SCV003917047 benign not provided 2023-11-01 criteria provided, single submitter clinical testing PSMB8: BS1, BS2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000272614 SCV003920361 likely benign Proteasome-associated autoinflammatory syndrome 1 2022-08-08 criteria provided, single submitter clinical testing PSMB8 NM_148919.3 exon 1 p.Gly8Arg (c.22G>A): This variant has been reported in the literature in at least 1 individual with PASH (Pyoderma Gangrenosum, Acne, and Suppurative Hidradenitis) syndrome (Marzano 2014 PMID:25501066). This variant is present in 4.6% (494/10576) of Finnish alleles, including 5 homozygotes, with similar frequencies across other sub-populations in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/6-32843975-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:356370). Evolutionary conservation for this variant is limited, though 2 other species (squirrel and squirrel monkey) carry this variant amino acid (Arginine) as their wild type; computational predictive tools suggest that this variant may not impact the protein. In summary, this variant is not expected to cause disease and is classified as benign.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572723 SCV001797524 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572723 SCV001930879 likely benign not provided no assertion criteria provided clinical testing

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