Sugi Variant

Sugi Variant/ALDH1A3

ALDH1A3 — 169 ClinVar variants

All ClinVar germline ALDH1A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →

15 Pathogenic · 13 Likely pathogenic · 2 Conflicting · 31 Benign · 6 Benign/Likely benign · 52 Likely benign · 50 Uncertain significance

Full ALDH1A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 47

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 35

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

Predictors split 8

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

All ALDH1A3 variants

Pathogenic 15

  • c.100-2A>G Multiple submitters isolated microphthalmia 8
  • c.1233+2T>C Single submitter isolated microphthalmia 8
  • c.537+5G>A Single submitter
  • p.Arg139Ter Single submitter Structural eye disease
  • p.Arg96His Single submitter isolated anophthalmia-microphthalmia syndrome
  • p.Glu426Ter Single submitter Structural eye disease
  • p.Gly237Arg Single submitter isolated anophthalmia-microphthalmia syndrome
  • p.Leu184fs Single submitter isolated microphthalmia 8
  • p.Met482fs Single submitter microphthalmia
  • p.Trp147fs Single submitter isolated microphthalmia 8
  • p.Trp189Ter Single submitter isolated microphthalmia 8
  • c.475+1G>T No assertion criteria isolated microphthalmia 8
  • p.Ala493Pro No assertion criteria isolated microphthalmia 8
  • p.Arg89Cys No assertion criteria isolated microphthalmia 8 ⚠
  • p.Val71Met No assertion criteria

Likely pathogenic 13

Conflicting classifications of pathogenicity 2

Benign 31

Benign/Likely benign 6

  • c.204+5A>C Multiple submitters isolated microphthalmia 8
  • p.Ala269= Multiple submitters isolated microphthalmia 8
  • p.Arg109= Multiple submitters isolated microphthalmia 8
  • p.Arg15Gly Multiple submitters isolated microphthalmia 8
  • p.Lys378= Multiple submitters isolated microphthalmia 8
  • p.Thr315= Multiple submitters isolated microphthalmia 8

Likely benign 52

Uncertain significance 50