NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr) AND Developmental and epileptic encephalopathy, 19

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 8, 2014
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:: RCV000114938.3

Allele description [Variation Report for NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr)]

NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr)

Gene:

GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q34

Genomic location:

Preferred name:

NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr)

HGVS:

NC_000005.10:g.161895726A>C
NG_011548.1:g.53536A>C
NM_000806.5:c.917A>C
NM_001127643.2:c.917A>C
NM_001127644.2:c.917A>CMANE SELECT
NM_001127645.2:c.917A>C
NM_001127648.2:c.917A>C
NP_000797.2:p.Lys306Thr
NP_001121115.1:p.Lys306Thr
NP_001121116.1:p.Lys306Thr
NP_001121117.1:p.Lys306Thr
NP_001121120.1:p.Lys306Thr
NC_000005.9:g.161322732A>C
P14867:p.Lys306Thr

Protein change:

K306T; LYS306THR

Links:

UniProtKB: P14867#VAR_071812; OMIM: 137160.0005; dbSNP: rs587777309

NCBI 1000 Genomes Browser:

rs587777309

Molecular consequence:

NM_000806.5:c.917A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127643.2:c.917A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127644.2:c.917A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127645.2:c.917A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127648.2:c.917A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 19 (DEE19)
Synonyms:: Epileptic encephalopathy, early infantile, 19
Identifiers:: MONDO: MONDO:0014328; MedGen: C3810400; Orphanet: 33069; OMIM: 615744

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148836	OMIM	no assertion criteria provided	Pathogenic (Apr 8, 2014)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148836

OMIM

no assertion criteria provided

Pathogenic
(Apr 8, 2014)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, et al.

Neurology. 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12.

PubMed [citation]

PMID:: 24623842
PMCID:: PMC4001207

Details of each submission

From OMIM, SCV000148836.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In an 18-month-old boy (patient Co05) with developmental and epileptic encephalopathy-19 (DEE19; 615744), Carvill et al. (2014) identified a de novo heterozygous c.917A-C transversion in the GABRA1 gene, resulting in a lys306-to-thr (K306T) substitution at a highly conserved residue. Functional studies of the variant were not performed. The patient had onset of seizures with status epilepticus at 8 months of age. The phenotype was consistent with a clinical diagnosis of Dravet syndrome.

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

Last Updated: Aug 5, 2023

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