VCV000205541.26 - ClinVar

NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(14)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic/Likely pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)

Variation ID: 205541 Accession: VCV000205541.26

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 5q34 5: 162095551 (GRCh38) [ NCBI UCSC ] 5: 161522557 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jul 31, 2016	May 1, 2024	Nov 3, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NM_198904.4:c.316G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_944494.1:p.Ala106Thr	missense
NM_000816.3:c.316G>A	NP_000807.2:p.Ala106Thr	missense
NM_001375339.1:c.307G>A	NP_001362268.1:p.Ala103Thr	missense
NM_001375340.1:c.316G>A	NP_001362269.1:p.Ala106Thr	missense
NM_001375341.1:c.316G>A	NP_001362270.1:p.Ala106Thr	missense
NM_001375342.1:c.316G>A	NP_001362271.1:p.Ala106Thr	missense
NM_001375343.1:c.316G>A	NP_001362272.1:p.Ala106Thr	missense
NM_001375344.1:c.316G>A	NP_001362273.1:p.Ala106Thr	missense
NM_001375345.1:c.250G>A	NP_001362274.1:p.Ala84Thr	missense
NM_001375346.1:c.250G>A	NP_001362275.1:p.Ala84Thr	missense
NM_001375347.1:c.229G>A	NP_001362276.1:p.Ala77Thr	missense
NM_001375348.1:c.-43G>A		5 prime UTR
NM_001375349.1:c.31G>A	NP_001362278.1:p.Ala11Thr	missense
NM_001375350.1:c.-43G>A		5 prime UTR
NM_198903.2:c.316G>A	NP_944493.2:p.Ala106Thr	missense
NC_000005.10:g.162095551G>A
NC_000005.9:g.161522557G>A
NG_009290.1:g.32910G>A

... more HGVS ... less HGVS

Protein change

A106T, A103T, A11T, A77T, A84T

Other names

p.A106T:GCT>ACT

Canonical SPDI

NC_000005.10:162095550:G:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA314712 OMIM: 137164.0008 dbSNP: rs796052505 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
GABRG2		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	677	713

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
not provided	Pathogenic/Likely pathogenic (5)	criteria provided, multiple submitters, no conflicts	Jun 6, 2022	RCV000187522.14
Epilepsy, childhood absence 2 Febrile seizures, familial, 8	Pathogenic/Likely pathogenic (3)	criteria provided, multiple submitters, no conflicts	Nov 3, 2023	RCV000547790.9
Developmental and epileptic encephalopathy, 74	Pathogenic (4)	criteria provided, multiple submitters, no conflicts	Oct 2, 2021	RCV000767869.8
Inborn genetic diseases	Pathogenic (1)	criteria provided, single submitter	Sep 26, 2018	RCV002321755.2
Developmental and epileptic encephalopathy, 74 Febrile seizures, familial, 8	Pathogenic (1)	criteria provided, single submitter	Nov 11, 2021	RCV003224207.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Apr 12, 2022)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000241116.15 First in ClinVar: Aug 07, 2015 Last updated: Mar 04, 2023	Comment: Published functional studies of A106T transfected HEK293T cells demonstrated decreased GABA-evoked whole-cell currents and altered kinetic properties of GABA-A receptor currents (Shen et al., 2017); … (more) Published functional studies of A106T transfected HEK293T cells demonstrated decreased GABA-evoked whole-cell currents and altered kinetic properties of GABA-A receptor currents (Shen et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29346770, 31171384, 31216405, 31087664, 30190672, 27864268, 28460589, 32901917, 32005694) (less)
Pathogenic (Oct 25, 2016)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Developmental and epileptic encephalopathy, 74 Affected status: yes Allele origin: de novo	Undiagnosed Diseases Network, NIH Study: Undiagnosed Diseases Network (NIH), UDN Accession: SCV000622176.3 First in ClinVar: Dec 26, 2017 Last updated: Aug 05, 2019	Comment: Rare de novo variant also identified in 4 other patients with very similar phenotype. Pathogenic given rare de novo variant also identified in four other … (more) Rare de novo variant also identified in 4 other patients with very similar phenotype. Pathogenic given rare de novo variant also identified in four other patients with near identical phenotype, as reported in PMID 28460589. Phenotype includes early-onset seizures, global developmental delay, intellectual disability, hypotonia, movement disorder and vision issues. (less) Number of individuals with the variant: 1 Clinical Features: Widely spaced primary teeth (present) , Wide nasal bridge (present) , Wide mouth (present) , Vesicoureteral reflux (present) , Thickened helices (present) , Thick lower … (more) Widely spaced primary teeth (present) , Wide nasal bridge (present) , Wide mouth (present) , Vesicoureteral reflux (present) , Thickened helices (present) , Thick lower lip vermilion (present) , Soft, doughy skin (present) , Short columella (present) , Short chin (present) , Severe global developmental delay (present) , Rotary nystagmus (present) , Prominent supraorbital ridges (present) , Prominent fingertip pads (present) , Primitive reflex (present) , Poor suck (present) , Pallor (present) , Oral-pharyngeal dysphagia (present) , Nystagmus (present) , Myopathic facies (present) , Mydriasis (present) , Multicystic kidney dysplasia (present) , Meconium stained amniotic fluid (present) , Low-set, posteriorly rotated ears (present) , Long toe (present) , Long palm (present) , Long foot (present) , Large forehead (present) , Joint hypermobility (present) , Intellectual disability (present) , Infantile muscular hypotonia (present) , Induced vaginal delivery (present) , Inability to walk (present) , Hypovolemia (present) , Hyperextensibility of the finger joints (present) , High, narrow palate (present) , High anterior hairline (present) , Generalized seizures (present) , Generalized hypotonia (present) , Exaggerated cupid's bow (present) , Everted lower lip vermilion (present) , Esotropia (present) , Dystonia (present) , Deeply set eye (present) , Cortical visual impairment (present) , Constipation (present) , Clinodactyly of the 5th finger (present) , Chorea (present) , Cafe-au-lait spot (present) , Broad hallux (present) , Bilateral coxa valga (present) , Athetosis (present) , Acetabular dysplasia (present) , Absent speech (present) , Abnormality of the vertebral spinous processes (present) , Abnormal finger flexion creases (present) , Abnormal conjugate eye movement (present) (less) Age: 0-9 years Sex: female Ethnicity/Population group: White Testing laboratory: HudsonAlpha Clinical Services Lab, LLC,HudsonAlpha Clinical Services Lab, LLC Date variant was reported to submitter: 2016-10-25
Likely pathogenic (Aug 19, 2015)	criteria provided, single submitter (DGD Variant Analysis Guidelines) Method: clinical testing	Not provided Affected status: unknown Allele origin: unknown	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia Accession: SCV000297409.3 First in ClinVar: Jul 31, 2016 Last updated: Dec 24, 2022
Pathogenic (Nov 03, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Febrile seizures, familial, 8 Epilepsy, childhood absence 2 Explanation for multiple conditions: Uncertain. The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases. Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000645966.4 First in ClinVar: Dec 26, 2017 Last updated: Feb 28, 2024	Publications: PubMed (2) PubMed: 27730413‚ 27864268 Comment: This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 106 of the GABRG2 protein (p.Ala106Thr). … (more) This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 106 of the GABRG2 protein (p.Ala106Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with epileptic encephalopathy (PMID: 27730413, 27864268). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 205541). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GABRG2 protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects GABRG2 function (PMID: 27864268). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Aug 27, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Febrile seizures, familial, 8 Febrile seizures, familial, 8 Febrile seizures, familial, 8 Affected status: unknown Allele origin: germline	Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago Accession: SCV000898724.1 First in ClinVar: Apr 25, 2019 Last updated: Apr 25, 2019	Comment: GABRG2 NM_000816.3 exon 3 p.Ala106Thr (c.316G>A): This variant has been reported in the literature in 6 individuals presenting with epilepsy and other features, 5 of … (more) GABRG2 NM_000816.3 exon 3 p.Ala106Thr (c.316G>A): This variant has been reported in the literature in 6 individuals presenting with epilepsy and other features, 5 of whom were identified as de novo (Shen 2017 PMID:27864268; Zou 2017 PMID:28460589). This variant is absent from large control databases but is present in ClinVar, with several labs classifying this variant as pathogenic (Variation ID: 205541). Evolutionary conservation and computational predictive tools for this variant are unclear. Additionally, in vitro functional studies support that this variant will impact the protein, disrupting channel function (Shen 2017 PMID:27864268). In summary, this variant is classified as pathogenic based on the data above. (less)
Likely pathogenic (Oct 12, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Febrile seizures, familial, 8 Febrile seizures, familial, 8 Affected status: yes Allele origin: germline	Baylor Genetics Accession: SCV000992706.1 First in ClinVar: Sep 23, 2019 Last updated: Sep 23, 2019	Publications: PubMed (2) PubMed: 27864268‚ 28460589
Pathogenic (Oct 02, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Developmental and epileptic encephalopathy, 74 Affected status: yes Allele origin: germline	3billion Accession: SCV002012280.1 First in ClinVar: Nov 11, 2021 Last updated: Nov 11, 2021	Publications: PubMed (4) PubMed: 27864268‚ 27730413‚ 28460589‚ 31216405 Comment: Same nucleotide change resulting in same amino acid change has been previously reported as de novoo and observed in at least four similarly affected unrelated … (more) Same nucleotide change resulting in same amino acid change has been previously reported as de novoo and observed in at least four similarly affected unrelated individuals (ClinVar ID: VCV000205541.11, PMID: 28460589, 27864268, 27730413, and 31216405, PS2 and PS4). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less) Clinical Features: Seizure (present) , Delayed fine motor development (present) , Delayed gross motor development (present) , Nystagmus (present) , Autistic behavior (present) , Brain atrophy (present) … (more) Seizure (present) , Delayed fine motor development (present) , Delayed gross motor development (present) , Nystagmus (present) , Autistic behavior (present) , Brain atrophy (present) , Developmental regression (present) , Microcephaly (present) , Intellectual disability (present) , Corpus callosum, agenesis of (present) , Muscle weakness (present) , Growth delay (present) , Short stature (present) , Intellectual disability, mild (present) (less)
Pathogenic (Feb 23, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Developmental and epileptic encephalopathy, 74 Affected status: yes Allele origin: germline	Genetics and Molecular Pathology, SA Pathology Additional submitter: Shariant Australia, Australian Genomics Accession: SCV002556376.2 First in ClinVar: Aug 08, 2022 Last updated: Dec 17, 2022
Pathogenic (Nov 11, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Developmental and epileptic encephalopathy, 74 Febrile seizures, familial, 8 Febrile seizures, familial, 8 Affected status: unknown Allele origin: germline	Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago Accession: SCV003919999.1 First in ClinVar: Apr 30, 2023 Last updated: Apr 30, 2023	Comment: GABRG2 NM_000816.3 exon 3 p.Ala106Thr (c.316G>A): This variant has been reported in the literature in 6 individuals presenting with epilepsy and other features, 5 of … (more) GABRG2 NM_000816.3 exon 3 p.Ala106Thr (c.316G>A): This variant has been reported in the literature in 6 individuals presenting with epilepsy and other features, 5 of whom were identified as de novo (Shen 2017 PMID:27864268; Zou 2017 PMID:28460589). This variant is absent from large control databases but is present in ClinVar, with several labs classifying this variant as pathogenic (Variation ID: 205541). Evolutionary conservation and computational predictive tools for this variant are unclear. Additionally, in vitro functional studies support that this variant will impact the protein, disrupting channel function (Shen 2017 PMID:27864268). In summary, this variant is classified as pathogenic based on the data above. (less)
Pathogenic (Jun 06, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Revvity Omics, Revvity Accession: SCV003825705.2 First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024
Pathogenic (Sep 26, 2018)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Inborn genetic diseases Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV002610041.2 First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024	Publications: PubMed (2) PubMed: 27864268‚ 28460589 Comment: The p.A106T pathogenic mutation (also known as c.316G>A), located in coding exon 3 of the GABRG2 gene, results from a G to A substitution at … (more) The p.A106T pathogenic mutation (also known as c.316G>A), located in coding exon 3 of the GABRG2 gene, results from a G to A substitution at nucleotide position 316. The alanine at codon 106 is replaced by threonine, an amino acid with similar properties. This mutation has been reported in multiple individuals with early-onset seizures, development delay, and hypotonia (Shen D et al. Brain, 2017 01;140:49-67; Zou F et al. J. Neurogenet. May;31:30-36). Functional studies of this mutation in HEK293T cells demonstrated a reduced surface level and altered kinetic properties (Shen D et al. Brain, 2017 01;140:49-67). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Pathogenic (Nov 25, 2020)	no assertion criteria provided Method: literature only	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000898481.2 First in ClinVar: Apr 22, 2019 Last updated: Nov 28, 2020	Publications: PubMed (1) PubMed: 27864268 Comment on evidence: In 2 unrelated patients (patients 1 and 2) with developmental and epileptic encephalopathy-74 (DEE74; 618396), Shen et al. (2017) identified a de novo heterozygous c.316G-A … (more) In 2 unrelated patients (patients 1 and 2) with developmental and epileptic encephalopathy-74 (DEE74; 618396), Shen et al. (2017) identified a de novo heterozygous c.316G-A transition in the GABRG2 gene, resulting in an ala106-to-thr (A106T) substitution at a nonconserved residue in the N-terminal domain. In vitro functional expression studies in transfected HEK293 cells showed that the mutant protein decreased currents by about 30%, had mildly decreased surface expression (about 75%), slowed deactivation of the channel, and had decreased response to GABA compared to wildtype. The patients had onset of seizures at 1 day and 3 months of life, respectively. Both had severe global developmental delay and were nonverbal. (less)
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Genome Diagnostics Laboratory, Amsterdam University Medical Center Study: VKGL Data-share Consensus Accession: SCV001808747.1 First in ClinVar: Aug 27, 2021 Last updated: Aug 27, 2021
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Genome Diagnostics Laboratory, University Medical Center Utrecht Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001928131.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021
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Comment:

Published functional studies of A106T transfected HEK293T cells demonstrated decreased GABA-evoked whole-cell currents and altered kinetic properties of GABA-A receptor currents (Shen et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29346770, 31171384, 31216405, 31087664, 30190672, 27864268, 28460589, 32901917, 32005694)

Comment:

Rare de novo variant also identified in 4 other patients with very similar phenotype. Pathogenic given rare de novo variant also identified in four other patients with near identical phenotype, as reported in PMID 28460589. Phenotype includes early-onset seizures, global developmental delay, intellectual disability, hypotonia, movement disorder and vision issues.

Comment:

This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 106 of the GABRG2 protein (p.Ala106Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with epileptic encephalopathy (PMID: 27730413, 27864268). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 205541). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GABRG2 protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects GABRG2 function (PMID: 27864268). For these reasons, this variant has been classified as Pathogenic.

Comment:

GABRG2 NM_000816.3 exon 3 p.Ala106Thr (c.316G>A): This variant has been reported in the literature in 6 individuals presenting with epilepsy and other features, 5 of whom were identified as de novo (Shen 2017 PMID:27864268; Zou 2017 PMID:28460589). This variant is absent from large control databases but is present in ClinVar, with several labs classifying this variant as pathogenic (Variation ID: 205541). Evolutionary conservation and computational predictive tools for this variant are unclear. Additionally, in vitro functional studies support that this variant will impact the protein, disrupting channel function (Shen 2017 PMID:27864268). In summary, this variant is classified as pathogenic based on the data above.

Comment:

Same nucleotide change resulting in same amino acid change has been previously reported as de novoo and observed in at least four similarly affected unrelated individuals (ClinVar ID: VCV000205541.11, PMID: 28460589, 27864268, 27730413, and 31216405, PS2 and PS4). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

Comment:

The p.A106T pathogenic mutation (also known as c.316G>A), located in coding exon 3 of the GABRG2 gene, results from a G to A substitution at nucleotide position 316. The alanine at codon 106 is replaced by threonine, an amino acid with similar properties. This mutation has been reported in multiple individuals with early-onset seizures, development delay, and hypotonia (Shen D et al. Brain, 2017 01;140:49-67; Zou F et al. J. Neurogenet. May;31:30-36). Functional studies of this mutation in HEK293T cells demonstrated a reduced surface level and altered kinetic properties (Shen D et al. Brain, 2017 01;140:49-67). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

Germline Functional Evidence

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.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Reanalysis of Clinical Exome Sequencing Data.	Liu P	The New England journal of medicine	2019	PMID: 31216405
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.	Zou F	Journal of neurogenetics	2017	PMID: 28460589
De novo GABRG2 mutations associated with epileptic encephalopathies.	Shen D	Brain : a journal of neurology	2017	PMID: 27864268
Presented Abstracts from the Thirty Fifth Annual Education Conference of the National Society of Genetic Counselors (Seattle, WA, September 2016).	-	Journal of genetic counseling	2016	PMID: 27730413

Text-mined citations for rs796052505 ...

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 Sep 29, 2024

ClinVar Genomic variation as it relates to human health

NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs796052505 ...