Sugi Variant

Sugi Variant/GABRA5

GABRA5 — 143 ClinVar variants

All ClinVar germline GABRA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →

2 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 2 Conflicting · 11 Benign · 5 Benign/Likely benign · 43 Likely benign · 77 Uncertain significance

Full GABRA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 62

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 1

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

Predictors lean, ClinVar uncertain 50

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

Predictors split 10

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

All GABRA5 variants

Pathogenic 2

  • p.Ser413Phe No assertion criteria developmental and epileptic encephalopathy, 79 ⚠
  • p.Val294Leu No assertion criteria developmental and epileptic encephalopathy, 79

Pathogenic/Likely pathogenic 2

  • p.Thr301Arg Multiple submitters developmental and epileptic encephalopathy, 79
  • p.Val294Phe Multiple submitters developmental and epileptic encephalopathy, 79

Likely pathogenic 1

Conflicting classifications of pathogenicity 2

  • p.Phe330= Single submitter developmental and epileptic encephalopathy, 79
  • p.Thr301Met Single submitter developmental and epileptic encephalopathy, 79 ⚠

Benign 11

Benign/Likely benign 5

Likely benign 43

Uncertain significance 77