NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) AND Encephalopathy due to GLUT1 deficiency

Germline classification:: Pathogenic (3 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:: RCV000193872.9

Allele description [Variation Report for NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)]

NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)

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.884C>T (p.Thr295Met)

Other names:

p.T295M:ACG>ATG

HGVS:

NC_000001.11:g.42929298G>A
NG_008232.1:g.34879C>T
NM_006516.4:c.884C>TMANE SELECT
NP_006507.2:p.Thr295Met
LRG_1132t1:c.884C>T
LRG_1132:g.34879C>T
NC_000001.10:g.43394969G>A
NM_006516.2:c.884C>T
NM_006516.3:c.884C>T
P11166:p.Thr295Met

Protein change:

T295M

Links:

UniProtKB: P11166#VAR_054763; dbSNP: rs80359823

NCBI 1000 Genomes Browser:

rs80359823

Molecular consequence:

NM_006516.4:c.884C>T - 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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Mus musculus neugrin, neurite outgrowth associated (Ngrn), transcript variant 2,...
Mus musculus neugrin, neurite outgrowth associated (Ngrn), transcript variant 2, mRNA
gi|254028155|ref|NM_031375.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000248915	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 30, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002556356	GeneReviews	no classification provided	not provided	germline	literature only
SCV004172890	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

SCV000248915

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 30, 2015)

germline

clinical testing

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

SCV002556356

GeneReviews

no classification provided

not provided

germline

literature only

SCV004172890

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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, SCV000248915.1

#	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 GeneReviews, SCV002556356.2

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

From Genome-Nilou Lab, SCV004172890.1

#	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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