Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 10, 2020
Accession:
VCV000205549.4
Variation ID:
205549
Description:
single nucleotide variant
Help

NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)

Allele ID
201892
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 162149152 (GRCh38) GRCh38 UCSC
5: 161576158 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.161576158C>T
NM_000816.3:c.967C>T NP_000807.2:p.Arg323Trp missense
NM_198903.2:c.1087C>T NP_944493.2:p.Arg363Trp missense
... more HGVS
Protein change
R323W, R363W, R183W, R228W, R294W, R301W, R320W, R322W, R336W
Other names
p.R323W:CGG>TGG
Canonical SPDI
NC_000005.10:162149151:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA314732
dbSNP: rs796052510
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 15, 2014 RCV000187530.1
Pathogenic 1 criteria provided, single submitter May 27, 2019 RCV000196679.4
Likely pathogenic 1 criteria provided, single submitter Sep 10, 2020 RCV001260612.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GABRG2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
381 409

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 15, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000241124.3
Submitted: (Jul 30, 2015)
Evidence details
Comment:
p.Arg323Trp (CGG>TGG): c.967 C>T in exon 8 of the GABRG2 gene (NM_000816.3) The R323W variant has not been published as a mutation, nor has it … (more)
Pathogenic
(May 27, 2019)
criteria provided, single submitter
Method: clinical testing
Familial febrile seizures 8
Epilepsy, childhood absence 2
Allele origin: germline
Invitae
Accession: SCV000254658.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces arginine with tryptophan at codon 323 of the GABRG2 protein (p.Arg323Trp). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Sep 10, 2020)
criteria provided, single submitter
Method: clinical testing
Intellectual disability
Allele origin: de novo
Diagnostic Laboratory, Strasbourg University Hospital
Accession: SCV001437704.1
Submitted: (Sep 18, 2020)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
De novo GABRG2 mutations associated with epileptic encephalopathies. Shen D Brain : a journal of neurology 2017 PMID: 27864268
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Carvill GL Nature genetics 2013 PMID: 23708187

Text-mined citations for rs796052510...

Help
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 Oct 24, 2021