NM_006516.2(SLC2A1):c.377G>A (p.Arg126His) AND GLUT1 deficiency syndrome 1

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

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Mar 12, 2013
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000017491.29

Allele description

NM_006516.2(SLC2A1):c.377G>A (p.Arg126His)

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_006516.2(SLC2A1):c.377G>A (p.Arg126His)

HGVS:

NC_000001.11:g.42930765C>T
NG_008232.1:g.33412G>A
NM_006516.2:c.377G>A
NP_006507.2:p.Arg126His
NC_000001.10:g.43396436C>T
P11166:p.Arg126His

Protein change:

R126H; ARG126HIS

Links:

UniProtKB: P11166#VAR_013183; OMIM: 138140.0007; dbSNP: rs80359816

NCBI 1000 Genomes Browser:

rs80359816

Molecular consequence:

NM_006516.2:c.377G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: GLUT1 deficiency syndrome 1 (GLUT1DS1)
Identifiers:: MedGen: CN030711; Orphanet: 71277; OMIM: 606777
Age of onset:: Infancy
Prevalence:: 1-9 / 100 000 71277

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037763	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000194965	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Feb 8, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000230329	Emory Genetics Laboratory,Emory University	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Mar 12, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037763

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2001)

germline

literature only

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

SCV000194965

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(Feb 8, 2013)

germline

clinical testing

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

SCV000230329

Emory Genetics Laboratory,Emory University

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Mar 12, 2013)

germline

clinical testing

Citation Link

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
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.

Brockmann K, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, De Vivo DC.

Ann Neurol. 2001 Oct;50(4):476-85.

PubMed [citation]

PMID:: 11603379

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From OMIM, SCV000037763.1

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

Description

In affected members of a family with GLUT1 deficiency (606777), Brockmann et al. (2001) identified a heterozygous arg126-to-his (R126H) missense mutation in the SLC2A1 gene.

#	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

From Genetic Services Laboratory, University of Chicago, SCV000194965.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

From Emory Genetics Laboratory,Emory University, SCV000230329.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Apr 16, 2017

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