Sugi Variant

Sugi Variant/EIF2B4

EIF2B4 — 482 ClinVar variants

All ClinVar germline EIF2B4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →

19 Pathogenic · 2 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 14 Conflicting · 22 Benign · 4 Benign/Likely benign · 260 Likely benign · 145 Uncertain significance

Full EIF2B4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 147

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 7

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

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 76

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

Predictors split 62

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

All EIF2B4 variants

Pathogenic 19

Pathogenic/Likely pathogenic 2

  • p.Pro243Leu Multiple submitters leukoencephalopathy with vanishing white matter 1 ⚠
  • p.Tyr489His Multiple submitters leukoencephalopathy with vanishing white matter 4

Likely pathogenic 16

  • c.32-1G>T Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Arg357Gln Multiple submitters leukoencephalopathy with vanishing white matter 4 ⚠
  • p.Thr502Met Multiple submitters leukoencephalopathy with vanishing white matter 4
  • c.1013+1G>T Single submitter
  • c.1191+2T>C Single submitter
  • c.31+1G>A Single submitter
  • c.32-1G>A Single submitter leukoencephalopathy with vanishing white matter 4
  • c.498+2_498+5del Single submitter leukoencephalopathy with vanishing white matter
  • c.66_75+18del Single submitter
  • c.782+2T>C Single submitter
  • p.Gly211Cys Single submitter leukoencephalopathy with vanishing white matter 1
  • p.Leu395Phe Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Pro184Leu Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Pro205Ala Single submitter leukoencephalopathy with vanishing white matter 4 ⚠
  • p.Ser139fs Single submitter leukoencephalopathy with vanishing white matter
  • p.Ser289Ile No assertion criteria leukoencephalopathy with vanishing white matter ⚠

Conflicting classifications of pathogenicity 14

  • c.1191+13G>A Single submitter leukoencephalopathy with vanishing white matter
  • p.Arg209Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg357Trp Single submitter leukoencephalopathy with vanishing white matter 4 ⚠
  • p.Arg374Cys Single submitter leukoencephalopathy with vanishing white matter 4 ⚠
  • p.Arg446His Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Arg467Gln Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Arg467Trp Single submitter leukoencephalopathy with vanishing white matter 4 ⚠
  • p.Asp461= Single submitter leukoencephalopathy with vanishing white matter
  • p.Gly120= Single submitter leukoencephalopathy with vanishing white matter
  • p.Gly124= Single submitter leukoencephalopathy with vanishing white matter
  • p.Gly23= Single submitter leukoencephalopathy with vanishing white matter
  • p.Lys17Asn Single submitter ⚠
  • p.Pro73= Single submitter leukoencephalopathy with vanishing white matter
  • p.Tyr441Cys Single submitter ⚠

Benign 22

Benign/Likely benign 4

  • p.Gln464= Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Glu310= Multiple submitters
  • p.Pro243= Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Val313Ala Multiple submitters leukoencephalopathy with vanishing white matter ⚠

Likely benign 260

Uncertain significance 145