ClinVar Miner

Submissions for variant NM_004159.5(PSMB8):c.689A>G (p.Tyr230Cys) (rs55853041)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000301215 SCV000462136 uncertain significance Nakajo syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000301215 SCV000816468 uncertain significance Nakajo syndrome 2018-10-02 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 234 of the PSMB8 protein (p.Tyr234Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs55853041, ExAC 0.09%), including at least one homozygous individual. This variant has not been reported in the literature in individuals with PSMB8-related disease. ClinVar contains an entry for this variant (Variation ID: 356362). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Fulgent Genetics,Fulgent Genetics RCV000301215 SCV000895753 uncertain significance Nakajo syndrome 2018-10-31 criteria provided, single submitter clinical testing

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