ClinVar Miner

Submissions for variant NM_002796.3(PSMB4):c.44dup (p.Pro16fs)

dbSNP: rs1235715459
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Total submissions: 2
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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

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