EIF2B1 — 305 ClinVar variants
All ClinVar germline EIF2B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
21 Pathogenic · 7 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 8 Conflicting · 13 Benign · 3 Benign/Likely benign · 144 Likely benign · 101 Uncertain significance
Full EIF2B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EIF2B1 p.Ala260Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Arg28Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Gln13His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Glu5Lys
Uncertain significance
Multiple submitters
leukoencephalopathy with vanishing white matter 1
-
EIF2B1 p.Gly184Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Gly204Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EIF2B1 p.Gly69Arg Uncertain significance Multiple submitters
-
EIF2B1 p.Ile42Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Leu168Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Met14Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EIF2B1 p.Ser107Leu Uncertain significance Multiple submitters
-
EIF2B1 p.Tyr227Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Val173Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Val175Asp
Uncertain significance
Multiple submitters
leukoencephalopathy with vanishing white matter
- EIF2B1 p.Ala143Val Uncertain significance Single submitter
- EIF2B1 p.Ala221Val Uncertain significance Single submitter
-
EIF2B1 p.Ala254Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF2B1 p.Ala260Val Uncertain significance Single submitter
-
EIF2B1 p.Asn172Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF2B1 p.Asn208Tyr
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter
-
EIF2B1 p.Asp274Asn
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter 1
- EIF2B1 p.Asp274His Uncertain significance Single submitter
-
EIF2B1 p.Asp3Tyr
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter
- EIF2B1 p.Glu299Asp Uncertain significance Single submitter
-
EIF2B1 p.Glu54Val
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF2B1 p.Gly211Val Uncertain significance Single submitter
-
EIF2B1 p.Gly97Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF2B1 p.Ile125Val
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF2B1 p.Ile186Val Uncertain significance Single submitter
-
EIF2B1 p.Leu168Pro
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter 1
-
EIF2B1 p.Leu171Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF2B1 p.Leu6Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF2B1 p.Lys189Glu Uncertain significance Single submitter
- EIF2B1 p.Lys220Asn Uncertain significance Single submitter
-
EIF2B1 p.Lys251Arg
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter 1
- EIF2B1 p.Met20Val Uncertain significance Single submitter
-
EIF2B1 p.Phe148Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF2B1 p.Ser131Phe
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter 1
- EIF2B1 p.Ser80Thr Uncertain significance Single submitter
-
EIF2B1 p.Thr153Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF2B1 p.Thr212Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF2B1 p.Thr292Arg
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter 1
- EIF2B1 p.Thr55Ser Uncertain significance Single submitter
- EIF2B1 p.Val134Leu Uncertain significance Single submitter
- EIF2B1 p.Val150Ala Uncertain significance Single submitter
- EIF2B1 p.Val150Leu Uncertain significance Single submitter
-
EIF2B1 p.Val217Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF2B1 p.Val246Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF2B1 p.Val273Ile Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
-
EIF2B1 p.Ala144Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EIF2B1 p.Arg28Trp Uncertain significance Multiple submitters
-
EIF2B1 p.Asp37His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Val142Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Val178Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF2B1 p.Val201Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EIF2B1 p.Ala141Gly Uncertain significance Single submitter
- EIF2B1 p.Ala141Val Uncertain significance Single submitter
-
EIF2B1 p.Arg147Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF2B1 p.Gly122Glu Uncertain significance Single submitter
- EIF2B1 p.Ile119Leu Uncertain significance Single submitter
-
EIF2B1 p.Leu179Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF2B1 p.Lys209Asn
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter
-
EIF2B1 p.Lys224Arg
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter
- EIF2B1 p.Phe118Val Uncertain significance Single submitter
-
EIF2B1 p.Thr176Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF2B1 p.Tyr130Cys
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter
- EIF2B1 p.Tyr275Phe Uncertain significance Single submitter
- EIF2B1 p.Val193Ile Uncertain significance Single submitter
- EIF2B1 p.Val290Ala Uncertain significance Single submitter
- EIF2B1 p.Gly44Asp Likely pathogenic No assertion criteria
-
EIF2B1 p.Lys110Glu
Pathogenic
No assertion criteria
leukoencephalopathy with vanishing white matter
All EIF2B1 variants
Pathogenic 21
- c.552-2A>T Single submitter
- p.Cys57Ter Single submitter
- p.Glu98Ter Single submitter
- p.Gly196fs Single submitter
- p.His128fs Single submitter
- p.Ile119fs Single submitter leukoencephalopathy with vanishing white matter
- p.Lys11Ter Single submitter
- p.Met14fs Single submitter
- p.Pro240fs Single submitter
- p.Ser107Ter Single submitter
- p.Ser22Ter Single submitter
- p.Ser232fs Single submitter
- p.Trp272fs Single submitter
- p.Trp272Ter Single submitter
- p.Tyr151Ter Single submitter
- p.Tyr86fs Single submitter
- p.Val193fs Single submitter
- p.Gly205del No assertion criteria leukoencephalopathy with vanishing white matter
- p.Lys110Glu No assertion criteria leukoencephalopathy with vanishing white matter ⚠
- p.Phe239Val No assertion criteria leukoencephalopathy with vanishing white matter
- p.Val183Phe No assertion criteria leukoencephalopathy with vanishing white matter
Pathogenic/Likely pathogenic 7
- p.Ala260fs Multiple submitters EIF2B1-related disorder
- p.Arg147Ter Multiple submitters leukoencephalopathy with vanishing white matter 1
- p.Glu154fs Multiple submitters leukoencephalopathy with vanishing white matter 1
- p.Gly196_Ala197insTer Multiple submitters
- p.Thr153fs Multiple submitters EIF2B1-related disorder
- p.Tyr275Cys Multiple submitters leukoencephalopathy with vanishing white matter 1
- p.Tyr9fs Multiple submitters leukoencephalopathy with vanishing white matter 1
Likely pathogenic 8
- c.115+1G>A Single submitter
- c.13+1G>T Single submitter
- c.14-1G>C Single submitter
- c.14-2A>G Single submitter
- c.252+2T>G Single submitter
- p.Ile206fs Single submitter EIF2B1-related disorder
- p.Pro174fs Single submitter leukoencephalopathy with vanishing white matter 1
- p.Gly44Asp No assertion criteria ⚠
Conflicting classifications of pathogenicity 8
- c.115+1G>T Single submitter
- c.14-13T>C Single submitter leukoencephalopathy with vanishing white matter
- c.252+13T>C Single submitter leukoencephalopathy with vanishing white matter
- c.252+1G>A Single submitter EIF2B1-related disorder
- c.370-10C>T Single submitter leukoencephalopathy with vanishing white matter
- p.Ala181= Single submitter leukoencephalopathy with vanishing white matter
- p.Asp245= Single submitter
- p.Asp287Gly Single submitter ⚠
Benign 13
- c.483-22G>T Multiple submitters
- c.551+38C>A Multiple submitters
- c.-144G>C Multiple submitters leukoencephalopathy with vanishing white matter
- c.*258A>G Multiple submitters leukoencephalopathy with vanishing white matter
- c.*378C>T Multiple submitters leukoencephalopathy with vanishing white matter
- c.*395T>C Multiple submitters leukoencephalopathy with vanishing white matter
- c.*464A>G Multiple submitters leukoencephalopathy with vanishing white matter
- c.*665C>T Multiple submitters leukoencephalopathy with vanishing white matter
- c.*731T>C Multiple submitters leukoencephalopathy with vanishing white matter
- p.Glu139= Multiple submitters leukoencephalopathy with vanishing white matter
- c.552-5del Single submitter
- c.*196A>T Single submitter leukoencephalopathy with vanishing white matter
- c.*426G>C Single submitter leukoencephalopathy with vanishing white matter
Benign/Likely benign 3
- c.370-20A>G Multiple submitters
- p.Ala143= Multiple submitters leukoencephalopathy with vanishing white matter
- p.Val59Ala Multiple submitters leukoencephalopathy with vanishing white matter
Likely benign 144
- c.369+15A>G Multiple submitters
- c.370-6C>T Multiple submitters
- c.483-9del Multiple submitters
- c.754-9T>C Multiple submitters
- c.-164G>A Multiple submitters leukoencephalopathy with vanishing white matter
- p.Asn203= Multiple submitters
- p.Asp113= Multiple submitters
- p.Gly289= Multiple submitters
- p.His128= Multiple submitters
- p.His170= Multiple submitters
- p.Ile207= Multiple submitters
- p.Leu126= Multiple submitters
- p.Leu81= Multiple submitters
- p.Ser297= Multiple submitters
- p.Val273= Multiple submitters
- c.115+10G>A Single submitter
- c.115+11A>G Single submitter
- c.115+12G>A Single submitter
- c.115+15A>G Single submitter
- c.115+16T>C Single submitter
- c.115+17C>T Single submitter
- c.115+19G>A Single submitter
- c.115+19G>T Single submitter
- c.115+20T>A Single submitter
- c.115+7A>G Single submitter
- c.115+7AG[2] Single submitter
- c.115+9_115+12del Single submitter
- c.116-15G>C Single submitter
- c.116-18C>G Single submitter
- c.116-18C>T Single submitter
- c.116-19C>T Single submitter
- c.13+11A>G Single submitter
- c.13+12C>G Single submitter
- c.13+12C>T Single submitter
- c.13+18A>G Single submitter
- c.13+18A>T Single submitter
- c.14-13del Single submitter
- c.14-18T>G Single submitter
- c.14-19C>G Single submitter
- c.14-9T>C Single submitter
- c.252+11G>T Single submitter
- c.252+15T>A Single submitter
- c.252+16C>T Single submitter
- c.252+7G>A Single submitter
- c.253-10T>G Single submitter
- c.369+13T>G Single submitter
- c.369+15A>T Single submitter
- c.369+50C>T Single submitter
- c.370-14T>C Single submitter
- c.370-16C>T Single submitter
- c.370-19A>G Single submitter
- c.370-20A>C Single submitter
- c.370-9G>C Single submitter
- c.482+11T>A Single submitter
- c.482+14T>C Single submitter
- c.482+15G>A Single submitter
- c.482+191A>G Single submitter
- c.482+7A>T Single submitter
- c.482+9C>T Single submitter
- c.483-19C>G Single submitter
- c.483-7T>C Single submitter
- c.552-8C>A Single submitter
- c.627+10T>C Single submitter
- c.627+10T>G Single submitter
- c.627+16C>T Single submitter
- c.627+20C>G Single submitter
- c.627+7G>T Single submitter
- c.628-7T>C Single submitter
- c.753+10_753+13del Single submitter
- c.753+14A>G Single submitter
- c.753+18T>G Single submitter
- c.753+7G>A Single submitter
- c.754-17T>A Single submitter
- c.754-17T>G Single submitter
- c.754-18G>A Single submitter
- c.754-19T>C Single submitter
- c.754-7T>C Single submitter
- c.-85G>A Single submitter leukoencephalopathy with vanishing white matter
- p.Ala141= Single submitter
- p.Ala144= Single submitter
- p.Ala167= Single submitter
- p.Ala21= Single submitter
- p.Ala219= Single submitter
- p.Ala26= Single submitter
- p.Ala260= Single submitter
- p.Ala295= Single submitter
- p.Ala47= Single submitter
- p.Ala64= Single submitter
- p.Ala79= Single submitter
- p.Arg147= Single submitter
- p.Arg46= Single submitter
- p.Arg74= Single submitter
- p.Asn242= Single submitter
- p.Asp121= Single submitter
- p.Asp255= Single submitter
- p.Asp298= Single submitter
- p.Cys115= Single submitter
- p.Cys218= Single submitter
- p.Gln222= Single submitter
- p.Glu154= Single submitter
- p.Glu268= Single submitter
- p.Glu269= Single submitter
- p.Glu5= Single submitter
- p.Glu82= Single submitter
- p.Glu95= Single submitter
- p.Gly122= Single submitter
- p.Gly39= Single submitter
- p.Gly68= Single submitter
- p.His116= Single submitter
- p.Ile206= Single submitter
- p.Ile301= Single submitter
- p.Leu138= Single submitter
- p.Leu241= Single submitter
- p.Leu257= Single submitter
- p.Leu283= Single submitter
- p.Leu284= Single submitter
- p.Leu291= Single submitter
- p.Leu300= Single submitter
- p.Leu303= Single submitter
- p.Leu56= Single submitter
- p.Lys189= Single submitter
- p.Lys35= Single submitter
- p.Phe239= Single submitter
- p.Phe33= Single submitter
- p.Phe75= Single submitter
- p.Ser105= Single submitter
- p.Ser107= Single submitter
- p.Ser131= Single submitter
- p.Ser160= Single submitter
- p.Ser279= Single submitter
- p.Ser67= Single submitter
- p.Ter306= Single submitter
- p.Thr262= Single submitter
- p.Thr276= Single submitter
- p.Thr29= Single submitter
- p.Thr50= Single submitter
- p.Tyr151= Single submitter
- p.Tyr86= Single submitter
- p.Tyr9= Single submitter
- p.Val152Ile Single submitter Inborn genetic diseases
- p.Val183= Single submitter
- p.Val195= Single submitter
- p.Val236= Single submitter
- p.Val259= Single submitter
Uncertain significance 101
- c.627+3A>G Multiple submitters
- c.-183C>G Multiple submitters leukoencephalopathy with vanishing white matter
- c.*506C>T Multiple submitters leukoencephalopathy with vanishing white matter
- p.Ala129Thr Multiple submitters leukoencephalopathy with vanishing white matter 1
- p.Ala144Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala260Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg28Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg28Trp Multiple submitters ⚠
- p.Asp37His Multiple submitters Inborn genetic diseases ⚠
- p.Gln13His Multiple submitters Inborn genetic diseases ⚠
- p.Glu5Lys Multiple submitters leukoencephalopathy with vanishing white matter 1 ⚠
- p.Gly184Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly204Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly69Arg Multiple submitters ⚠
- p.Ile42Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu168Val Multiple submitters Inborn genetic diseases ⚠
- p.Met14Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser107Leu Multiple submitters ⚠
- p.Ser84= Multiple submitters
- p.Tyr227Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val142Met Multiple submitters Inborn genetic diseases ⚠
- p.Val173Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val175Asp Multiple submitters leukoencephalopathy with vanishing white matter ⚠
- p.Val178Met Multiple submitters Inborn genetic diseases ⚠
- p.Val201Ala Multiple submitters Inborn genetic diseases ⚠
- c.115+5A>G Single submitter
- c.13+5A>G Single submitter
- c.482+3A>G Single submitter leukoencephalopathy with vanishing white matter
- c.-135G>C Single submitter leukoencephalopathy with vanishing white matter
- c.-146A>C Single submitter leukoencephalopathy with vanishing white matter
- c.-150C>T Single submitter leukoencephalopathy with vanishing white matter
- c.-193G>T Single submitter leukoencephalopathy with vanishing white matter
- c.-208G>A Single submitter leukoencephalopathy with vanishing white matter
- c.-70C>T Single submitter leukoencephalopathy with vanishing white matter
- c.-91C>G Single submitter leukoencephalopathy with vanishing white matter
- c.-91C>T Single submitter leukoencephalopathy with vanishing white matter
- c.*149C>G Single submitter leukoencephalopathy with vanishing white matter
- c.*219C>T Single submitter leukoencephalopathy with vanishing white matter
- c.*332A>G Single submitter leukoencephalopathy with vanishing white matter
- c.*422C>T Single submitter leukoencephalopathy with vanishing white matter
- c.*425G>C Single submitter leukoencephalopathy with vanishing white matter
- c.*508A>T Single submitter leukoencephalopathy with vanishing white matter
- c.*529G>A Single submitter leukoencephalopathy with vanishing white matter
- c.*640T>C Single submitter leukoencephalopathy with vanishing white matter
- p.Ala123= Single submitter
- p.Ala141Gly Single submitter ⚠
- p.Ala141Val Single submitter ⚠
- p.Ala143Val Single submitter ⚠
- p.Ala221Val Single submitter ⚠
- p.Ala254Thr Single submitter Inborn genetic diseases ⚠
- p.Ala260Val Single submitter ⚠
- p.Arg103del Single submitter
- p.Arg147Gln Single submitter Inborn genetic diseases ⚠
- p.Asn172Ser Single submitter Inborn genetic diseases ⚠
- p.Asn208Tyr Single submitter leukoencephalopathy with vanishing white matter ⚠
- p.Asp274Asn Single submitter leukoencephalopathy with vanishing white matter 1 ⚠
- p.Asp274His Single submitter ⚠
- p.Asp3Tyr Single submitter leukoencephalopathy with vanishing white matter ⚠
- p.Gln156= Single submitter leukoencephalopathy with vanishing white matter
- p.Glu299Asp Single submitter ⚠
- p.Glu54Val Single submitter Inborn genetic diseases ⚠
- p.Gly122Glu Single submitter ⚠
- p.Gly205= Single submitter leukoencephalopathy with vanishing white matter
- p.Gly211Val Single submitter ⚠
- p.Gly97Arg Single submitter Inborn genetic diseases ⚠
- p.Ile119Leu Single submitter ⚠
- p.Ile125Val Single submitter Inborn genetic diseases ⚠
- p.Ile186Val Single submitter ⚠
- p.Leu168Pro Single submitter leukoencephalopathy with vanishing white matter 1 ⚠
- p.Leu171Phe Single submitter Inborn genetic diseases ⚠
- p.Leu179Val Single submitter Inborn genetic diseases ⚠
- p.Leu284del Single submitter
- p.Leu6Ser Single submitter Inborn genetic diseases ⚠
- p.Lys189Glu Single submitter ⚠
- p.Lys209Asn Single submitter leukoencephalopathy with vanishing white matter ⚠
- p.Lys220Asn Single submitter ⚠
- p.Lys224Arg Single submitter leukoencephalopathy with vanishing white matter ⚠
- p.Lys251Arg Single submitter leukoencephalopathy with vanishing white matter 1 ⚠
- p.Met20Val Single submitter ⚠
- p.Phe118Val Single submitter ⚠
- p.Phe148Leu Single submitter Inborn genetic diseases ⚠
- p.Pro278Ala Single submitter Inborn genetic diseases
- p.Ser131Phe Single submitter leukoencephalopathy with vanishing white matter 1 ⚠
- p.Ser80Thr Single submitter ⚠
- p.Ter306ThrextTer? Single submitter leukoencephalopathy with vanishing white matter 1
- p.Thr153Pro Single submitter Inborn genetic diseases ⚠
- p.Thr176Ser Single submitter Inborn genetic diseases ⚠
- p.Thr212Asn Single submitter Inborn genetic diseases ⚠
- p.Thr292Arg Single submitter leukoencephalopathy with vanishing white matter 1 ⚠
- p.Thr55Ser Single submitter ⚠
- p.Tyr130Cys Single submitter leukoencephalopathy with vanishing white matter ⚠
- p.Tyr275Phe Single submitter ⚠
- p.Val134Leu Single submitter ⚠
- p.Val150Ala Single submitter ⚠
- p.Val150Leu Single submitter ⚠
- p.Val178Leu Single submitter
- p.Val193Ile Single submitter ⚠
- p.Val217Leu Single submitter Inborn genetic diseases ⚠
- p.Val246Ile Single submitter Inborn genetic diseases ⚠
- p.Val273Ile Single submitter ⚠
- p.Val290Ala Single submitter ⚠