Sugi Variant

Sugi Variant/ALDH3A2

ALDH3A2 — 669 ClinVar variants

All ClinVar germline ALDH3A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

63 Pathogenic · 32 Pathogenic/Likely pathogenic · 73 Likely pathogenic · 26 Conflicting · 31 Benign · 6 Benign/Likely benign · 269 Likely benign · 169 Uncertain significance

Full ALDH3A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 127

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 10

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

Predictors lean, ClinVar uncertain 86

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

Predictors split 29

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

All ALDH3A2 variants

Pathogenic 63

Pathogenic/Likely pathogenic 32

Likely pathogenic 73

Conflicting classifications of pathogenicity 26

Benign 31

Benign/Likely benign 6

  • c.386-6A>G Multiple submitters Sjogren-Larsson syndrome
  • c.940+53C>G Multiple submitters Sjogren-Larsson syndrome
  • c.*36G>A Multiple submitters Sjogren-Larsson syndrome
  • p.Ala188Val Multiple submitters Sjogren-Larsson syndrome
  • p.Leu155= Multiple submitters
  • p.Pro424Ser Multiple submitters Sjogren-Larsson syndrome

Likely benign 269

Uncertain significance 169