ClinVar Miner

Submissions for variant NM_002796.3(PSMB4):c.-9G>A

gnomAD frequency: 0.00112  dbSNP: rs200946642
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001855409 SCV002174206 uncertain significance not provided 2024-01-31 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the PSMB4 gene. It does not change the encoded amino acid sequence of the PSMB4 protein. This variant is present in population databases (rs200946642, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome (PMID: 26524591). ClinVar contains an entry for this variant (Variation ID: 548956). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects PSMB4 function (PMID: 26524591). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000663376 SCV003817989 uncertain significance Proteasome-associated autoinflammatory syndrome 3 2021-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001855409 SCV003916486 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980291 SCV004789476 likely benign PSMB4-related disorder 2019-04-01 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).
OMIM RCV000663376 SCV000786659 pathogenic Proteasome-associated autoinflammatory syndrome 3 2018-07-23 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.