Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002530604 | SCV003523445 | uncertain significance | not provided | 2022-05-05 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with clinical features of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome (PMID: 26524591). This sequence change creates a premature translational stop signal (p.Pro16Serfs*45) in the PSMB4 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PSMB4 cause disease. This variant is present in population databases (no rsID available, gnomAD 0.006%). ClinVar contains an entry for this variant (Variation ID: 548957). 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. |
OMIM | RCV000663377 | SCV000786660 | pathogenic | Proteasome-associated autoinflammatory syndrome 3 | 2018-07-23 | no assertion criteria provided | literature only |