ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.826C>G (p.Gln276Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577100 SCV005060921 uncertain significance Proteasome-associated autoinflammatory syndrome 1 criteria provided, single submitter clinical testing The observed missense c.826C>G(p.Gln276Glu) variant in PSMB8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Gln at position 276 is changed to a Glu changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Gln276Glu in PSMB8 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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