Sugi Variant

Sugi Variant/AIMP1

AIMP1 — 158 ClinVar variants

All ClinVar germline AIMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

12 Pathogenic · 5 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 3 Conflicting · 13 Benign · 5 Benign/Likely benign · 31 Likely benign · 83 Uncertain significance

Full AIMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 77

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 3

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

Predictors lean, ClinVar uncertain 58

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

Predictors split 16

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

All AIMP1 variants

Pathogenic 12

Pathogenic/Likely pathogenic 5

  • p.Asn89fs Multiple submitters leukodystrophy, hypomyelinating, 3
  • p.Gln39Ter Multiple submitters AIMP1-related disorder
  • p.Lys121fs Multiple submitters
  • p.Lys54fs Multiple submitters AIMP1-related disorder
  • p.Pro233fs Multiple submitters AIMP1-related disorder

Likely pathogenic 6

Conflicting classifications of pathogenicity 3

Benign 13

Benign/Likely benign 5

Likely benign 31

Uncertain significance 83