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NM_001127644.2(GABRA1):c.995C>T (p.Ala332Val)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 15, 2021)
Last evaluated:
Jan 21, 2021
Accession:
VCV000992951.2
Variation ID:
992951
Description:
single nucleotide variant
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NM_001127644.2(GABRA1):c.995C>T (p.Ala332Val)

Allele ID
980888
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 161895804 (GRCh38) GRCh38 UCSC
5: 161322810 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.161895804C>T
NM_000806.5:c.995C>T NP_000797.2:p.Ala332Val missense
NC_000005.9:g.161322810C>T
... more HGVS
Protein change
A332V
Other names
-
Canonical SPDI
NC_000005.10:161895803:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 137160.0008
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jan 21, 2021 RCV001283749.2
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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
383 409

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 21, 2021)
no assertion criteria provided
Method: literature only
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19
Allele origin: germline
OMIM
Accession: SCV001469095.1
Submitted: (Jan 15, 2021)
Evidence details
Publications
PubMed (1)

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
A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro. Steudle F Scientific reports 2020 PMID: 32047208

Record last updated Sep 29, 2021