Total submissions: 5
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, |
RCV000663376 | SCV003817989 | uncertain significance | Proteasome-associated autoinflammatory syndrome 3 | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001855409 | SCV003916486 | uncertain significance | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Prevention |
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 |