Sugi Variant

Sugi Variant/EIF2B5

EIF2B5 — 791 ClinVar variants

All ClinVar germline EIF2B5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 252 flagged for review →

43 Pathogenic · 25 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 29 Conflicting · 12 Benign · 4 Benign/Likely benign · 401 Likely benign · 231 Uncertain significance

Full EIF2B5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 252

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 19

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

Predictors agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 108

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

Predictors split 117

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

All EIF2B5 variants

Pathogenic 43

Pathogenic/Likely pathogenic 25

  • p.Ala140fs Multiple submitters leukoencephalopathy with vanishing white matter 5
  • p.Ala403Val Multiple submitters leukoencephalopathy with vanishing white matter 5 ⚠
  • p.Arg113Cys Multiple submitters leukoencephalopathy with vanishing white matter ⚠
  • p.Arg121Ter Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Arg136Cys Multiple submitters leukoencephalopathy with vanishing white matter 5
  • p.Arg241Ter Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Arg269Gln Multiple submitters hereditary breast ovarian cancer syndrome ⚠
  • p.Arg299His Multiple submitters leukoencephalopathy with vanishing white matter 1 ⚠
  • p.Arg315His Multiple submitters leukoencephalopathy with vanishing white matter 5 ⚠
  • p.Arg339Gln Multiple submitters leukoencephalopathy with vanishing white matter ⚠
  • p.Arg339Trp Multiple submitters leukoencephalopathy with vanishing white matter 5 ⚠
  • p.Arg344Ter Multiple submitters leukoencephalopathy with vanishing white matter 5
  • p.Arg401Ter Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Asp147fs Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Glu81Lys Multiple submitters leukoencephalopathy with vanishing white matter 5
  • p.Ile156Met Multiple submitters ⚠
  • p.Ile649Thr Multiple submitters leukoencephalopathy with vanishing white matter 5 ⚠
  • p.Leu68Ser Multiple submitters EIF2B5-related disorder
  • p.Met305Leu Multiple submitters Leukodystrophy, Adult-Onset ⚠
  • p.Phe653_Leu654insTer Multiple submitters leukoencephalopathy with vanishing white matter 5
  • p.Pro427Leu Multiple submitters leukoencephalopathy with vanishing white matter 5 ⚠
  • p.Ser447Leu Multiple submitters leukoencephalopathy with vanishing white matter ⚠
  • p.Thr182Met Multiple submitters leukoencephalopathy with vanishing white matter 5
  • p.Thr91Ala Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Val430Ala Multiple submitters leukoencephalopathy with vanishing white matter

Likely pathogenic 46

Conflicting classifications of pathogenicity 29

  • c.1445-10C>G Single submitter
  • c.1870-5C>A Single submitter leukoencephalopathy with vanishing white matter
  • c.2107-12G>A Single submitter leukoencephalopathy with vanishing white matter
  • c.2107-14C>T Single submitter leukoencephalopathy with vanishing white matter
  • c.2107-15T>C Single submitter leukoencephalopathy with vanishing white matter
  • p.Ala100Val Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Ala2Val Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Arg222Trp Single submitter leukoencephalopathy with vanishing white matter 5 ⚠
  • p.Arg241Gln Single submitter ⚠
  • p.Arg422Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg428His Single submitter Inborn genetic diseases ⚠
  • p.Arg563Gln Single submitter leukoencephalopathy with vanishing white matter 5 ⚠
  • p.Arg638= Single submitter leukoencephalopathy with vanishing white matter
  • p.Arg638His Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Asn72= Single submitter leukoencephalopathy with vanishing white matter
  • p.Asp62Val Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Glu536Asp Single submitter leukoencephalopathy with vanishing white matter 5 ⚠
  • p.His337Arg Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.His352= Single submitter leukoencephalopathy with vanishing white matter
  • p.Leu149Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe56Val Single submitter leukoencephalopathy with vanishing white matter 5 ⚠
  • p.Phe652= Single submitter leukoencephalopathy with vanishing white matter
  • p.Pro24= Single submitter
  • p.Pro454Ser Single submitter leukoencephalopathy with vanishing white matter 5 ⚠
  • p.Thr182= Single submitter leukoencephalopathy with vanishing white matter
  • p.Thr442Met Single submitter leukoencephalopathy with vanishing white matter ⚠
  • p.Val151= Single submitter leukoencephalopathy with vanishing white matter
  • p.Val155= Single submitter leukoencephalopathy with vanishing white matter
  • p.Val389= Single submitter leukoencephalopathy with vanishing white matter 5

Benign 12

Benign/Likely benign 4

  • c.320+9C>T Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Gln562= Multiple submitters leukoencephalopathy with vanishing white matter
  • p.Pro538= Multiple submitters
  • p.Ser447= Multiple submitters leukoencephalopathy with vanishing white matter

Likely benign 401

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 231