NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser) AND Childhood onset GLUT1 deficiency syndrome 2

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001822976.2

Allele description [Variation Report for NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser)]

NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser)

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.1136T>C (p.Phe379Ser)

HGVS:

NC_000001.11:g.42927747A>G
NG_008232.1:g.36430T>C
NM_006516.4:c.1136T>CMANE SELECT
NP_006507.2:p.Phe379Ser
LRG_1132:g.36430T>C
NC_000001.10:g.43393418A>G
NM_006516.2:c.1136T>C

Protein change:

F379S

Links:

dbSNP: rs2124446500

NCBI 1000 Genomes Browser:

rs2124446500

Molecular consequence:

NM_006516.4:c.1136T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Childhood onset GLUT1 deficiency syndrome 2
Synonyms:: PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012805; MedGen: C1842534; Orphanet: 98811; OMIM: 612126

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002072494	Génétique des Maladies du Développement, Hospices Civils de Lyon	no assertion criteria provided	Likely pathogenic	paternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002072494

Génétique des Maladies du Développement, Hospices Civils de Lyon

no assertion criteria provided

Likely pathogenic

paternal

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV002072494.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Jun 23, 2024

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