NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 23, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001237384.8

Allele description [Variation Report for NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup)]

NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

5q34

Genomic location:

Preferred name:

NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup)

HGVS:

NC_000005.10:g.161897405_161897407dup
NG_011548.1:g.55215_55217dup
NM_000806.5:c.1354_1356dup
NM_001127643.2:c.1354_1356dup
NM_001127644.2:c.1354_1356dupMANE SELECT
NM_001127645.2:c.1354_1356dup
NM_001127648.2:c.1354_1356dup
NP_000797.2:p.Pro452dup
NP_001121115.1:p.Pro452dup
NP_001121116.1:p.Pro452dup
NP_001121117.1:p.Pro452dup
NP_001121120.1:p.Pro452dup
NC_000005.9:g.161324408_161324409insCCC
NC_000005.9:g.161324411_161324413dup

Links:

dbSNP: rs1755419468

Molecular consequence:

NM_000806.5:c.1354_1356dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001127643.2:c.1354_1356dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001127644.2:c.1354_1356dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001127645.2:c.1354_1356dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001127648.2:c.1354_1356dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Idiopathic generalized epilepsy
Synonyms:: EIG; Generalised epilepsy
Identifiers:: MONDO: MONDO:0005579; MedGen: C0270850; OMIM: 600669; OMIM: PS600669

Name:: Epilepsy, idiopathic generalized, susceptibility to, 13
Synonyms:: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
Identifiers:: MONDO: MONDO:0012627; MedGen: C4013473; Orphanet: 307; Orphanet: 64280; OMIM: 611136

Name:: Epilepsy, childhood absence 4 (ECA4)
Synonyms:: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4
Identifiers:: MedGen: C1970160; Orphanet: 307

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001410141	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 23, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001410141

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 23, 2024)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001410141.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant, c.1354_1356dup, results in the insertion of 1 amino acid(s) of the GABRA1 protein (p.Pro452dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GABRA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 963369). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 23, 2026

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