Sugi Variant

Sugi Variant/GABRA3

GABRA3 — 74 ClinVar variants

All ClinVar germline GABRA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 3 Benign · 2 Benign/Likely benign · 13 Likely benign · 52 Uncertain significance

Full GABRA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 48

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 38

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

Predictors split 9

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

All GABRA3 variants

Pathogenic 3

  • p.Tyr474Cys Single submitter Inborn genetic diseases
  • p.Gln242Leu No assertion criteria epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
  • p.Thr166Met No assertion criteria epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features ⚠

Likely pathogenic 1

  • p.Tyr277Cys Single submitter epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features

Benign 3

Benign/Likely benign 2

  • p.Ala420Thr Multiple submitters epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
  • p.Ser351= Multiple submitters

Likely benign 13

Uncertain significance 52