Sugi Variant

Sugi Variant/COPB1

COPB1 — 120 ClinVar variants

All ClinVar germline COPB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Conflicting · 1 Benign · 22 Likely benign · 93 Uncertain significance

Full COPB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 65

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 18

The independent predictors disagree with each other — read with care.

All COPB1 variants

Pathogenic 2

Pathogenic/Likely pathogenic 1

  • c.957+1G>T No assertion criteria Baralle-Macken syndrome

Conflicting classifications of pathogenicity 1

Benign 1

Likely benign 22

Uncertain significance 93