ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg)

gnomAD frequency: 0.00001  dbSNP: rs1007524117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003763853 SCV001381962 uncertain significance Proteosome-associated autoinflammatory syndrome 2019-06-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PSMB8-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 61 of the PSMB8 protein (p.Gly61Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261306 SCV002542810 uncertain significance Autoinflammatory syndrome 2019-06-01 criteria provided, single submitter clinical testing

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