Sugi Variant

Sugi Variant/APOC3

APOC3 — 83 ClinVar variants

All ClinVar germline APOC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →

2 Pathogenic · 6 Conflicting · 12 Benign · 4 Benign/Likely benign · 23 Likely benign · 36 Uncertain significance

Full APOC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 30

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 2

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

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 21

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

Predictors split 5

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

All APOC3 variants

Pathogenic 2

  • p.Lys78Glu No assertion criteria apolipoprotein c-III deficiency ⚠
  • p.Thr94Ala No assertion criteria Apolipoprotein C-III, nonglycosylated ⚠

Conflicting classifications of pathogenicity 6

Benign 12

Benign/Likely benign 4

  • c.180-16C>T Multiple submitters
  • p.Ala23= Multiple submitters Cardiovascular phenotype
  • p.Gln33= Multiple submitters Cardiovascular phenotype
  • p.Thr42= Multiple submitters Cardiovascular phenotype

Likely benign 23

Uncertain significance 36