NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 13, 2017
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:: RCV001267280.2

Allele description [Variation Report for NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)]

NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)

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.1198C>T (p.Arg400Cys)

Other names:

p.R400C:CGT>TGT

HGVS:

NC_000001.11:g.42927685G>A
NG_008232.1:g.36492C>T
NM_006516.4:c.1198C>TMANE SELECT
NP_006507.2:p.Arg400Cys
LRG_1132:g.36492C>T
NC_000001.10:g.43393356G>A
NM_006516.2:c.1198C>T

Protein change:

R400C

Links:

dbSNP: rs796053263

NCBI 1000 Genomes Browser:

rs796053263

Molecular consequence:

NM_006516.4:c.1198C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001445461	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Dec 13, 2017)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 22704013, 26193382, 22976442, 25487684, 21555602, 21865127, 28018440 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445461

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Dec 13, 2017)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
African American/Caucasian/Ashkenazi Jewish	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Allelic variations of glut-1 deficiency syndrome: the chinese experience.

Liu Y, Bao X, Wang D, Fu N, Zhang X, Cao G, Song F, Wang S, Zhang Y, Qin J, Yang H, Engelstad K, De Vivo DC, Wu X.

Pediatr Neurol. 2012 Jul;47(1):30-4. doi: 10.1016/j.pediatrneurol.2012.04.010.

PubMed [citation]

PMID:: 22704013

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, et al.

Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17.

PubMed [citation]

PMID:: 26193382

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV001445461.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African American/Caucasian/Ashkenazi Jewish	1	not provided	not provided	clinical testing	PubMed (7)

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

Last Updated: Feb 28, 2024

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