Sugi Variant

Sugi Variant/AIMP2

AIMP2 — 174 ClinVar variants

All ClinVar germline AIMP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Conflicting · 14 Benign · 2 Benign/Likely benign · 50 Likely benign · 100 Uncertain significance

Full AIMP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 96

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 60

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

Predictors split 35

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

All AIMP2 variants

Pathogenic 3

Pathogenic/Likely pathogenic 1

  • p.Met24fs Multiple submitters leukodystrophy, hypomyelinating, 17

Likely pathogenic 3

  • p.Ser219fs Multiple submitters leukodystrophy, hypomyelinating, 17
  • p.Tyr35Ter Multiple submitters leukodystrophy, hypomyelinating, 17
  • p.Tyr25Cys Single submitter leukodystrophy, hypomyelinating, 17 ⚠

Conflicting classifications of pathogenicity 1

Benign 14

Benign/Likely benign 2

  • p.Thr154= Multiple submitters leukodystrophy, hypomyelinating, 17
  • p.Val6Leu Multiple submitters leukodystrophy, hypomyelinating, 17

Likely benign 50

Uncertain significance 100