Sugi Variant

Sugi Variant/EIF2B3

EIF2B3 — 349 ClinVar variants

All ClinVar germline EIF2B3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

3 Pathogenic · 4 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 11 Conflicting · 21 Benign · 8 Benign/Likely benign · 168 Likely benign · 124 Uncertain significance

Full EIF2B3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 110

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 7

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

Predictors lean, ClinVar uncertain 67

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

Predictors split 35

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

All EIF2B3 variants

Pathogenic 3

  • p.Arg225Pro Single submitter leukoencephalopathy with vanishing white matter
  • p.Leu27Gln No assertion criteria leukoencephalopathy with vanishing white matter 3
  • p.Val398fs No assertion criteria leukoencephalopathy with vanishing white matter 3

Pathogenic/Likely pathogenic 4

  • p.Ala87Val Multiple submitters leukoencephalopathy with vanishing white matter 3
  • p.Arg225Gln Multiple submitters leukoencephalopathy with vanishing white matter 3 ⚠
  • p.Ile346Thr Multiple submitters leukoencephalopathy with vanishing white matter 3 ⚠
  • p.Val30Ala Multiple submitters leukoencephalopathy with vanishing white matter 1

Likely pathogenic 10

  • p.Arg225Trp Multiple submitters leukoencephalopathy with vanishing white matter 3
  • c.455-2A>G Single submitter leukoencephalopathy with vanishing white matter 3
  • p.Ala151fs Single submitter
  • p.Arg312Leu Single submitter leukoencephalopathy with vanishing white matter 3
  • p.Asp201Gly Single submitter leukoencephalopathy with vanishing white matter 3
  • p.Cys281Ter Single submitter EIF2B3-related disorder
  • p.Leu168Pro Single submitter leukoencephalopathy with vanishing white matter
  • p.Ser89Tyr Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Tyr205Cys Single submitter leukoencephalopathy with vanishing white matter 3
  • p.Val313fs Single submitter leukoencephalopathy with vanishing white matter 3

Conflicting classifications of pathogenicity 11

  • c.785-6C>G Single submitter leukoencephalopathy with vanishing white matter
  • p.Arg372His Single submitter Inborn genetic diseases ⚠
  • p.Arg91His Single submitter leukoencephalopathy with vanishing white matter 3 ⚠
  • p.Asp288Glu Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Gly11Val Single submitter leukoencephalopathy with vanishing white matter 3 ⚠
  • p.Gly429= Single submitter leukoencephalopathy with vanishing white matter
  • p.Ile229Met Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Lys328Arg Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Pro24Leu Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Ser377Leu Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Thr197= Single submitter leukoencephalopathy with vanishing white matter

Benign 21

Benign/Likely benign 8

  • c.1053+11G>A Multiple submitters
  • c.1202+8T>G Multiple submitters leukoencephalopathy with vanishing white matter
  • c.149-4A>G Multiple submitters leukoencephalopathy with vanishing white matter
  • c.455-17del Multiple submitters
  • c.455-17dup Multiple submitters
  • c.975+9A>G Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Ile211= Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Leu63= Multiple submitters leukoencephalopathy with vanishing white matter

Likely benign 168

Uncertain significance 124