Sugi Variant

Sugi Variant/GABRB1

GABRB1 — 439 ClinVar variants

All ClinVar germline GABRB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 185 flagged for review →

1 Pathogenic · 4 Likely pathogenic · 5 Conflicting · 17 Benign · 7 Benign/Likely benign · 183 Likely benign · 222 Uncertain significance

Full GABRB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 185

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 agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 156

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 156

Predictors split 25

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

All GABRB1 variants

Pathogenic 1

  • p.Phe246Ser No assertion criteria developmental and epileptic encephalopathy, 45

Likely pathogenic 4

  • p.Arg53Trp Single submitter developmental and epileptic encephalopathy, 45
  • p.Ile247Thr Single submitter developmental and epileptic encephalopathy, 45 ⚠
  • p.Thr285Lys Single submitter developmental and epileptic encephalopathy, 45
  • p.Thr287Ile Single submitter developmental and epileptic encephalopathy, 45

Conflicting classifications of pathogenicity 5

Benign 17

Benign/Likely benign 7

Likely benign 183

Uncertain significance 222