Sugi Variant

Sugi Variant/EIF2B2

EIF2B2 — 326 ClinVar variants

All ClinVar germline EIF2B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →

16 Pathogenic · 10 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 11 Conflicting · 21 Benign · 3 Benign/Likely benign · 149 Likely benign · 105 Uncertain significance

Full EIF2B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 98

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 54

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

Predictors split 42

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

All EIF2B2 variants

Pathogenic 16

Pathogenic/Likely pathogenic 10

  • p.Arg183Ter Multiple submitters leukoencephalopathy with vanishing white matter 2
  • p.Glu304Ter Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Gly200Val Multiple submitters EIF2B2-related disorder
  • p.Ile190fs Multiple submitters leukoencephalopathy with vanishing white matter 2
  • p.Lys273Arg Multiple submitters leukoencephalopathy with vanishing white matter 2 ⚠
  • p.Met1Ile Multiple submitters leukoencephalopathy with vanishing white matter 2
  • p.Ser171Phe Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Val308Met Multiple submitters leukoencephalopathy with vanishing white matter 2 ⚠
  • p.Val316Asp Multiple submitters leukoencephalopathy with vanishing white matter 2
  • p.Val85Glu Multiple submitters leukoencephalopathy with vanishing white matter 2

Likely pathogenic 11

  • c.285-1G>A Multiple submitters leukoencephalopathy with vanishing white matter 2
  • c.832-2A>G Multiple submitters leukoencephalopathy with vanishing white matter 2
  • c.163+1G>A Single submitter
  • c.421_433+19del Single submitter
  • c.832-2A>T Single submitter
  • p.Ala182fs Single submitter leukoencephalopathy with vanishing white matter 2
  • p.Cys194Tyr Single submitter
  • p.Gln277Ter Single submitter leukoencephalopathy with vanishing white matter
  • p.Pro196Ser Single submitter
  • p.Val316Phe Single submitter leukoencephalopathy with vanishing white matter
  • p.Phe197Leu No assertion criteria leukoencephalopathy with vanishing white matter ⚠

Conflicting classifications of pathogenicity 11

  • c.433+15C>T Single submitter leukoencephalopathy with vanishing white matter
  • c.434-7C>G Single submitter
  • c.899-13G>A Single submitter leukoencephalopathy with vanishing white matter
  • p.Ala127Val Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Gln154= Single submitter leukoencephalopathy with vanishing white matter
  • p.Glu32= Single submitter leukoencephalopathy with vanishing white matter
  • p.Gly40Ala Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Gly55= Single submitter
  • p.Phe297fs Single submitter leukoencephalopathy with vanishing white matter 2
  • p.Pro333= Single submitter leukoencephalopathy with vanishing white matter
  • p.Thr236= Single submitter leukoencephalopathy with vanishing white matter

Benign 21

Benign/Likely benign 3

  • c.899-11T>G Multiple submitters leukoencephalopathy with vanishing white matter
  • c.*180G>C Multiple submitters
  • c.*3G>C Multiple submitters

Likely benign 149

Uncertain significance 105