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NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys) AND Encephalopathy due to GLUT1 deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2014
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:
RCV000824820.2

Allele description [Variation Report for NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys)]

NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys)

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.102T>G (p.Asn34Lys)
HGVS:
  • NC_000001.11:g.42943238A>C
  • NG_008232.1:g.20939T>G
  • NM_006516.4:c.102T>GMANE SELECT
  • NP_006507.2:p.Asn34Lys
  • LRG_1132:g.20939T>G
  • NC_000001.10:g.43408909A>C
  • NM_006516.2:c.102T>G
Protein change:
N34K
Links:
dbSNP: rs1570601007
NCBI 1000 Genomes Browser:
rs1570601007
Molecular consequence:
  • NM_006516.4:c.102T>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000965707Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2007)		Likely pathogenic
(Jan 1, 2014) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical 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

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000965707.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024