Sugi Variant

Sugi Variant/GCLC

GCLC — 217 ClinVar variants

All ClinVar germline GCLC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

2 Pathogenic · 8 Conflicting · 26 Benign · 11 Benign/Likely benign · 71 Likely benign · 99 Uncertain significance

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

⚑ Evidence disagreements 92

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 3

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

Predictors lean, ClinVar uncertain 74

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

Predictors split 15

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

All GCLC variants

Pathogenic 2

  • p.His370Leu No assertion criteria gamma-glutamylcysteine synthetase deficiency
  • p.Pro158Leu No assertion criteria gamma-glutamylcysteine synthetase deficiency

Conflicting classifications of pathogenicity 8

Benign 26

Benign/Likely benign 11

Likely benign 71

Uncertain significance 99