Sugi Variant

Sugi Variant/GABRA2

GABRA2 — 356 ClinVar variants

All ClinVar germline GABRA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →

5 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 14 Conflicting · 18 Benign · 2 Benign/Likely benign · 155 Likely benign · 148 Uncertain significance

Full GABRA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 119

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 agree, ClinVar conflicts 10

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 85

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

Predictors split 22

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

All GABRA2 variants

Pathogenic 5

  • p.Glu330fs Single submitter developmental and epileptic encephalopathy, 78
  • p.Ser299Arg Single submitter developmental and epileptic encephalopathy, 78
  • p.Leu291Val No assertion criteria developmental and epileptic encephalopathy, 78
  • p.Met263Thr No assertion criteria developmental and epileptic encephalopathy, 78
  • p.Phe285fs No assertion criteria developmental and epileptic encephalopathy, 78

Pathogenic/Likely pathogenic 3

  • p.Ala332Val Multiple submitters developmental and epileptic encephalopathy, 78
  • p.Pro280Leu Multiple submitters Inborn genetic diseases
  • p.Thr294Ile Multiple submitters developmental and epileptic encephalopathy, 78

Likely pathogenic 11

Conflicting classifications of pathogenicity 14

Benign 18

Benign/Likely benign 2

Likely benign 155

Uncertain significance 148