U.S. flag

An official website of the United States government

NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) AND Epilepsy, idiopathic generalized, susceptibility to, 12

Germline classification:
risk factor (1 submission)
Last evaluated:
Nov 1, 2012
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:
RCV000082868.6

Allele description [Variation Report for NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)]

NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)

Gene:
SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
HGVS:
  • NC_000001.11:g.42927148G>A
  • NG_008232.1:g.37029C>T
  • NM_006516.4:c.1372C>TMANE SELECT
  • NP_006507.2:p.Arg458Trp
  • LRG_1132:g.37029C>T
  • NC_000001.10:g.43392819G>A
  • NM_006516.2:c.1372C>T
  • P11166:p.Arg458Trp
Protein change:
R458W; ARG458TRP
Links:
UniProtKB: P11166#VAR_076236; OMIM: 138140.0021; dbSNP: rs13306758
NCBI 1000 Genomes Browser:
rs13306758
Molecular consequence:
  • NM_006516.4:c.1372C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epilepsy, idiopathic generalized, susceptibility to, 12 (EIG12)
Identifiers:
MONDO: MONDO:0013919; MedGen: C3553859; OMIM: 614847

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000114919OMIM
no assertion criteria provided
risk factor
(Nov 1, 2012)
germlineliterature only

Arsov, T., Mullen, S. A., Rogers, S., Phillips, A. M., Lawrence, K. M., Damiano, J. A., Goldberg-Stern, H., Afawi, Z., Kivity, S., Trager, C., Petrou, S., Berkovic, S. F., Scheffer, I. E. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann. Neurol. 72: 807-815, 2012.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV000114919.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In a 30-year-old man with idiopathic generalized epilepsy (EIG12; 614847), Arsov et al. (2012) identified a heterozygous c.1372C-T transition in exon 10 of the SLC2A1 gene, resulting in an arg458-to-trp (R458W) substitution at a highly conserved residue. In vitro functional expression studies in Xenopus oocytes showed that the R458W substitution caused a marked reduced in glucose transport. The patient had onset of childhood absence epilepsy at age 6 and developed paroyxsmal exertional dyskinesia in his teens. He also had arm dystonia. The patient's father, who also carried the mutation, had onset of childhood absence seizures at age 7, developed PED as an adult, and had disabling leg dyskinesia when walking. The father's unaffected 66-year-old sister also carried the mutation, indicating incomplete penetrance. The proband was identified from a cohort of 504 probands with IGE who underwent direct sequencing of the SLC2A1 gene. The mutation was not found in 470 controls and had not previously been reported in databases of normal human genetic variation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025