Sugi Variant

Sugi Variant/ACACA

ACACA — 411 ClinVar variants

All ClinVar germline ACACA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Conflicting · 41 Benign · 3 Benign/Likely benign · 148 Likely benign · 212 Uncertain significance

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

⚑ Evidence disagreements 197

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.

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 121

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

Predictors split 74

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

All ACACA variants

Pathogenic 1

Pathogenic/Likely pathogenic 1

  • p.Pro2214His No assertion criteria acetyl-coa carboxylase deficiency

Conflicting classifications of pathogenicity 5

Benign 41

Benign/Likely benign 3

Likely benign 148

Uncertain significance 212