Sugi Variant

Sugi Variant/ST3GAL3

ST3GAL3 — 407 ClinVar variants

All ClinVar germline ST3GAL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

10 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 21 Conflicting · 21 Benign · 6 Benign/Likely benign · 177 Likely benign · 160 Uncertain significance

Full ST3GAL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 131

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 3

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

Predictors lean, ClinVar uncertain 98

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

Predictors split 29

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

All ST3GAL3 variants

Pathogenic 10

  • c.302+1del Single submitter early-infantile DEE
  • c.891+1del Single submitter developmental and epileptic encephalopathy, 15
  • p.Arg177Ter Single submitter early-infantile DEE
  • p.Arg216fs Single submitter ST3GAL3-related disorder
  • p.Arg270Ter Single submitter
  • p.Tyr244delinsLeuTer Single submitter early-infantile DEE
  • p.Ala13Asp No assertion criteria intellectual disability, autosomal recessive 12
  • p.Ala320Pro No assertion criteria developmental and epileptic encephalopathy, 15
  • p.Asp370Tyr No assertion criteria intellectual disability, autosomal recessive 12
  • p.Tyr220Ter No assertion criteria developmental and epileptic encephalopathy, 15

Pathogenic/Likely pathogenic 2

Likely pathogenic 10

  • c.118+1G>A Single submitter early-infantile DEE
  • c.167-2A>G Single submitter developmental and epileptic encephalopathy
  • c.167-2A>T Single submitter early-infantile DEE
  • c.210-1G>C Single submitter early-infantile DEE
  • c.397+2T>C Single submitter developmental and epileptic encephalopathy, 15
  • c.558-19_562del Single submitter early-infantile DEE
  • c.891+1G>T Single submitter early-infantile DEE
  • c.891+2T>G Single submitter developmental and epileptic encephalopathy
  • p.Thr349Met Single submitter intellectual disability, autosomal recessive 12 ⚠
  • p.Trp28Ter Single submitter developmental and epileptic encephalopathy, 15

Conflicting classifications of pathogenicity 21

Benign 21

Benign/Likely benign 6

Likely benign 177

Uncertain significance 160