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NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 17, 2019
Accession:
VCV000265161.5
Variation ID:
265161
Description:
single nucleotide variant
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NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)

Allele ID
259817
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 161882638 (GRCh38) GRCh38 UCSC
5: 161309644 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.161882638C>T
NC_000005.9:g.161309644C>T
NM_001127644.2:c.640C>T MANE Select NP_001121116.1:p.Arg214Cys missense
... more HGVS
Protein change
R214C
Other names
-
Canonical SPDI
NC_000005.10:161882637:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs727503940
ClinGen: CA10588397
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 10, 2015 RCV000255903.1
Pathogenic 1 criteria provided, single submitter Jul 17, 2019 RCV000817598.2
Uncertain significance 1 no assertion criteria provided Feb 10, 2017 RCV000678794.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GABRA1 Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
392 418

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 10, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000321687.6
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R214C missense change in the GABRA1 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism … (more)
Pathogenic
(Jul 17, 2019)
criteria provided, single submitter
Method: clinical testing
Epilepsy, childhood absence 4
Epilepsy, juvenile myoclonic 5
Idiopathic generalized epilepsy
Allele origin: germline
Invitae
Accession: SCV000958167.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces arginine with cysteine at codon 214 of the GABRA1 protein (p.Arg214Cys). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(Feb 10, 2017)
no assertion criteria provided
Method: clinical testing
intractable seizures
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000804975.1
Submitted: (Jul 17, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy. Bai YF Molecular brain 2019 PMID: 31707987
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. Lindy AS Epilepsia 2018 PMID: 29655203
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Johannesen K Neurology 2016 PMID: 27521439
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. Fokstuen S Human genomics 2016 PMID: 27353043

Text-mined citations for rs727503940...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 10, 2021