NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) AND Encephalopathy due to GLUT1 deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 11, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003445091.1

Allele description [Variation Report for NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)]

NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)

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.694C>T (p.Arg232Cys)

Other names:

p.R232C:CGC>TGC

HGVS:

NC_000001.11:g.42929766G>A
NG_008232.1:g.34411C>T
NM_006516.4:c.694C>TMANE SELECT
NP_006507.2:p.Arg232Cys
LRG_1132:g.34411C>T
NC_000001.10:g.43395437G>A
NM_006516.2:c.694C>T
P11166:p.Arg232Cys

Protein change:

R232C; ARG232CYS

Links:

UniProtKB: P11166#VAR_069078; OMIM: 138140.0019; dbSNP: rs387907313

NCBI 1000 Genomes Browser:

rs387907313

Molecular consequence:

NM_006516.4:c.694C>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004173307	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely 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

SCV004173307

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely 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

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 Genome-Nilou Lab, SCV004173307.1

#	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: Oct 20, 2024

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