NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)]

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

GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)
  • NC_000005.10:g.161882638C>T
  • NG_011548.1:g.40448C>T
  • NM_000806.5:c.640C>T
  • NM_001127643.2:c.640C>T
  • NM_001127644.2:c.640C>TMANE SELECT
  • NM_001127645.2:c.640C>T
  • NM_001127648.2:c.640C>T
  • NP_000797.2:p.Arg214Cys
  • NP_001121115.1:p.Arg214Cys
  • NP_001121116.1:p.Arg214Cys
  • NP_001121117.1:p.Arg214Cys
  • NP_001121120.1:p.Arg214Cys
  • NC_000005.9:g.161309644C>T
Protein change:
dbSNP: rs727503940
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000806.5:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000321687GeneDxcriteria provided, single submitter
(Mar 10, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000321687.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


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 to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R214C missense change is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and a missense variant in a nearby residue (D219N) has been reported in association with idiopathic generalized epilepsy (Lachance-Touchette et al., 2011). In silico analysis predicts R214C is probably damaging to the protein structure/function. Additionally, R214C has been previously seen at GeneDx as a de novo mutation in another patient referred for epilepsy testing. Therefore, R214C is considered to be a pathogenic variant.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 10, 2021

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