NM_003907.3(EIF2B5):c.925G>C (p.Val309Leu) AND Leukoencephalopathy with vanishing white matter

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 24, 2002
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000006311.4

Allele description

NM_003907.3(EIF2B5):c.925G>C (p.Val309Leu)

Gene:

EIF2B5:eukaryotic translation initiation factor 2B subunit epsilon [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

Preferred name:

NM_003907.3(EIF2B5):c.925G>C (p.Val309Leu)

HGVS:

NC_000003.12:g.184140499G>C
NG_015826.1:g.10478G>C
NM_003907.3:c.925G>C
NP_003898.2:p.Val309Leu
NC_000003.11:g.183858287G>C

Protein change:

L309V; LEU309VAL

Links:

OMIM: 603945.0006; dbSNP: rs113994061

NCBI 1000 Genomes Browser:

rs113994061

Molecular consequence:

NM_003907.3:c.925G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Leukoencephalopathy with vanishing white matter (VWM)
Synonyms:: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION; LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET
Identifiers:: MedGen: C1858991; Orphanet: 99853; OMIM: 603896

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026493	OMIM	no assertion criteria provided	Pathogenic (Dec 24, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026493

OMIM

no assertion criteria provided

Pathogenic
(Dec 24, 2002)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.

Fogli A, Dionisi-Vici C, Deodato F, Bartuli A, Boespflug-Tanguy O, Bertini E.

Neurology. 2002 Dec 24;59(12):1966-8.

PubMed [citation]

PMID:: 12499492

Details of each submission

From OMIM, SCV000026493.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 sibs with a severe acute fatal infantile form of leukoencephalopathy with vanishing white matter (VWM; 603896), Fogli et al. (2002) identified a homozygous 925G-C mutation in the EIF2B5 gene, resulting in a leu309-to-val (L309V) substitution. The unaffected parents were heterozygous for the mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 11, 2019

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