Sugi Variant

Sugi Variant/GLS

GLS — 189 ClinVar variants

All ClinVar germline GLS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →

11 Pathogenic · 9 Likely pathogenic · 1 Conflicting · 5 Benign · 58 Likely benign · 105 Uncertain significance

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

⚑ Evidence disagreements 96

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 72

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 GLS variants

Pathogenic 11

  • p.Phe224fs Multiple submitters global developmental delay, progressive ataxia, and elevated glutamine
  • c.1713-9C>G Single submitter developmental and epileptic encephalopathy, 71
  • p.Arg272Lys Single submitter developmental and epileptic encephalopathy, 71
  • p.Asp232fs Single submitter developmental and epileptic encephalopathy, 71
  • p.Gln549Ter Single submitter Autosomal recessive GLS-related disorders
  • p.Gln81Ter Single submitter developmental and epileptic encephalopathy, 71
  • p.Ile488fs Single submitter developmental and epileptic encephalopathy, 71
  • p.Tyr308Ter Single submitter global developmental delay, progressive ataxia, and elevated glutamine
  • p.His461Leu No assertion criteria infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
  • p.Pro313Leu No assertion criteria global developmental delay, progressive ataxia, and elevated glutamine
  • p.Ser482Cys No assertion criteria infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development

Likely pathogenic 9

Conflicting classifications of pathogenicity 1

Benign 5

Likely benign 58

Uncertain significance 105