{{Rsnum
|rsid=28939717
|Gene=EIF2B5
|Chromosome=3
|position=184136687
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=EIF2B5
}}{{omim
|desc=LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
|id=603945
|rsnum=28939717
|variant=0001
}}{{ClinVar
|rsid=28939717
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=183854475
|CHROM=3
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000016110100
|GENEINFO=EIF2B5:8893
|GENE_NAME=EIF2B5
|GENE_ID=8893
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.183854475A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=603945.0001
|CLNSIG=5
|CLNCUI=C1858991
|CLNDBN=Leukoencephalopathy with vanishing white matter
|Disease=Leukoencephalopathy with vanishing white matter
|CLNACC=RCV000006305.1
|Tags=PM;PMC;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1258:C1858991:603896:135
|COMMON=0
}}{{PMID|11704758}} Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

{{PMID|14572143}} Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.{{GET Evidence
|gene=EIF2B5
|aa_change=Thr91Ala
|aa_change_short=T91A
|impact=pathogenic
|qualified_impact=High clinical importance, Likely pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs28939717
|overall_frequency_n=1
|overall_frequency_d=128
|overall_frequency=0.0078125
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_severity=5
|qualityscore_treatability=1
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.074
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=4
|webscore=N
|n_web_uneval=10
|variant_evidence=2
|clinical_importance=1
|summary_short=Recessive, reported to cause leukoencephalopathy with vanishing white matter (a degenerative brain disease that manifests in childhood). Published observations of this variant were all linked to a common haplotype, indicating a single founder mutation, and carriers all had ancestors that lived in a rural region in the eastern part of the Netherlands.
}}