PSMB1 — 20 ClinVar variants
All ClinVar germline PSMB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Pathogenic · 1 Likely benign · 18 Uncertain significance
Full PSMB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMB1 p.Arg128Cys Uncertain significance Single submitter
- PSMB1 p.Arg66Gln Uncertain significance Single submitter
- PSMB1 p.Glu46Asp Uncertain significance Single submitter
- PSMB1 p.Gly114Ala Uncertain significance Single submitter
- PSMB1 p.Leu177Phe Uncertain significance Single submitter
- PSMB1 p.Leu194Pro Uncertain significance Single submitter
- PSMB1 p.Lys73Arg Uncertain significance Single submitter
- PSMB1 p.Lys94Arg Uncertain significance Single submitter
- PSMB1 p.Thr122Ser Uncertain significance Single submitter
- PSMB1 p.Tyr103Cys Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- PSMB1 p.Ala49Gly Uncertain significance Single submitter
- PSMB1 p.Asp67Val Uncertain significance Single submitter
- PSMB1 p.His64Arg Uncertain significance Single submitter
- PSMB1 p.Ile43Val Uncertain significance Single submitter
- PSMB1 p.Ser121Cys Uncertain significance Single submitter
- PSMB1 p.Ser151Gly Uncertain significance Single submitter
- PSMB1 p.Thr39Ala Uncertain significance Single submitter
- PSMB1 p.Thr65Met Uncertain significance Single submitter
All PSMB1 variants
Pathogenic 1
- p.Tyr103His No assertion criteria neurodevelopmental disorder with microcephaly, hypotonia, and absent language
Likely benign 1
- p.Ser237Pro Single submitter
Uncertain significance 18
- p.Ala49Gly Single submitter ⚠
- p.Arg128Cys Single submitter ⚠
- p.Arg66Gln Single submitter ⚠
- p.Asp67Val Single submitter ⚠
- p.Glu46Asp Single submitter ⚠
- p.Gly114Ala Single submitter ⚠
- p.His64Arg Single submitter ⚠
- p.Ile43Val Single submitter ⚠
- p.Leu177Phe Single submitter ⚠
- p.Leu194Pro Single submitter ⚠
- p.Lys73Arg Single submitter ⚠
- p.Lys94Arg Single submitter ⚠
- p.Ser121Cys Single submitter ⚠
- p.Ser151Gly Single submitter ⚠
- p.Thr122Ser Single submitter ⚠
- p.Thr39Ala Single submitter ⚠
- p.Thr65Met Single submitter ⚠
- p.Tyr103Cys Single submitter ⚠