ClinVar Miner

Submissions for variant NM_004159.5(PSMB8):c.212C>T (p.Thr71Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816894 SCV000957423 pathogenic Nakajo syndrome 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 75 of the PSMB8 protein (p.Thr75Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs748082671, ExAC 0.009%). This variant has been observed to segregate with PMSB8-related conditions in several individuals and families (PMID: 21129723, 21953331). Experimental studies have shown that this missense change affects PSMB8 protein function(PMID: 26524591). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000816894 SCV000044027 pathogenic Nakajo syndrome 2012-03-01 no assertion criteria provided literature only
OMIM RCV000663373 SCV000786656 pathogenic PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC 2012-03-01 no assertion criteria provided literature only

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