NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) AND Encephalopathy due to GLUT1 deficiency

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 11, 2023
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:: RCV000147534.7

Allele description [Variation Report for NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)]

NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)

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.823G>A (p.Ala275Thr)

Other names:

p.A275T:GCT>ACT

HGVS:

NC_000001.11:g.42929637C>T
NG_008232.1:g.34540G>A
NM_006516.4:c.823G>AMANE SELECT
NP_006507.2:p.Ala275Thr
LRG_1132:g.34540G>A
NC_000001.10:g.43395308C>T
NM_006516.2:c.823G>A
P11166:p.Ala275Thr

Protein change:

A275T; ALA275THR

Links:

UniProtKB: P11166#VAR_054761; OMIM: 138140.0010; dbSNP: rs121909740

NCBI 1000 Genomes Browser:

rs121909740

Molecular consequence:

NM_006516.4:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Encephalopathy due to GLUT1 deficiency
Synonyms:: De Vivo disease; Glucose transport defect, blood-brain barrier; Glucose transporter protein syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011724; MedGen: C4551966; Orphanet: 71277; OMIM: 606777

Recent activity

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Putative NADP-dependent oxidoreductase yfmJ [Bacillus subtilis PY79]
Putative NADP-dependent oxidoreductase yfmJ [Bacillus subtilis PY79]
gi|558567297|gnl|LASimm|U712_03775| A76703.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000194979	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Dec 16, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004172907	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000194979

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(Dec 16, 2013)

germline

clinical testing

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

SCV004172907

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 11, 2023)

germline

clinical testing

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	no	not provided	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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000194979.1

#	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 Genome-Nilou Lab, SCV004172907.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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