ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys)

gnomAD frequency: 0.00001  dbSNP: rs757343575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geng Laboratory, The Second Hospital Affiliated to Xi’an Jiaotong University RCV001093596 SCV001197254 uncertain significance Proteasome-associated autoinflammatory syndrome 1 2020-02-15 criteria provided, single submitter clinical testing In-silico analysis by Mutation Taster, Polyphen-2, REVEL, SIFT and Provean, both mutations were predicted as damaging.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261273 SCV002542818 uncertain significance Autoinflammatory syndrome 2021-06-07 criteria provided, single submitter clinical testing

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