NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) AND GLUT1 deficiency syndrome 1, autosomal recessive

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 3, 2019
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:: RCV001049017.5

Allele description

NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)

Gene:

SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1p34.2

Genomic location:

Preferred name:

NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)

HGVS:

NC_000001.10:g.43395396_43395399del
NC_000001.11:g.42929721CTTC[1]
NC_000001.11:g.42929721_42929724CTTC[1]
NG_008232.1:g.34449GAAG[1]
NM_006516.4:c.736_739delMANE SELECT
NP_006507.2:p.Glu246fs
LRG_1132:g.34449GAAG[1]
NC_000001.10:g.43395392CTTC[1]
NC_000001.10:g.43395392_43395395del
NC_000001.10:g.43395396_43395399del
NM_006516.2:c.736_739del

Protein change:

E246fs

Links:

dbSNP: rs1570592604

NCBI 1000 Genomes Browser:

rs1570592604

Molecular consequence:

NM_006516.4:c.736_739del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: GLUT1 deficiency syndrome 1, autosomal recessive
Identifiers:: MedGen: C3149117

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001213050	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 3, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21832227, 26193382, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001213050

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 3, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H.

Neurology. 2011 Sep 6;77(10):959-64. doi: 10.1212/WNL.0b013e31822e0479. Epub 2011 Aug 10.

PubMed [citation]

PMID:: 21832227

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 (3)

Details of each submission

From Invitae, SCV001213050.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Glu246Argfs*5) in the SLC2A1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC2A1 are known to be pathogenic (PMID: 21832227, 26193382). This variant has not been reported in the literature in individuals with SLC2A1-related conditions. This variant is not present in population databases (ExAC no frequency).

#	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

Last Updated: Feb 20, 2024

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