Sugi Variant

Sugi Variant/AGO2

AGO2 — 189 ClinVar variants

All ClinVar germline AGO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

5 Pathogenic · 4 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 1 Conflicting · 14 Benign · 2 Benign/Likely benign · 30 Likely benign · 124 Uncertain significance

Full AGO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 109

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 lean, ClinVar uncertain 63

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

Predictors split 45

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

All AGO2 variants

Pathogenic 5

  • p.Thr357Met Multiple submitters Lessel-Kreienkamp syndrome
  • p.Leu192Pro Single submitter Lessel-Kreienkamp syndrome
  • p.Phe182del Single submitter Lessel-Kreienkamp syndrome
  • p.Gly733Arg No assertion criteria Lessel-Kreienkamp syndrome
  • p.Met364Thr No assertion criteria Lessel-Kreienkamp syndrome

Pathogenic/Likely pathogenic 4

  • p.Arg714Trp Multiple submitters neurodevelopmental disorder
  • p.Cys751Tyr Multiple submitters Inborn genetic diseases
  • p.Gly201Val Multiple submitters Lessel-Kreienkamp syndrome
  • p.Gly604Arg Multiple submitters Lessel-Kreienkamp syndrome

Likely pathogenic 9

Conflicting classifications of pathogenicity 1

Benign 14

Benign/Likely benign 2

Likely benign 30

Uncertain significance 124