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NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 30, 2016
Accession:
VCV000199041.2
Variation ID:
199041
Description:
single nucleotide variant
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NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala)

Allele ID
196201
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 161891045 (GRCh38) GRCh38 UCSC
5: 161318051 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.161891045T>C
NC_000005.9:g.161318051T>C
NM_001127644.2:c.851T>C MANE Select NP_001121116.1:p.Val284Ala missense
... more HGVS
Protein change
V284A
Other names
-
Canonical SPDI
NC_000005.10:161891044:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA248019
dbSNP: rs794727962
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 30, 2016 RCV000180531.4
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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
Uncertain significance
(Nov 14, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232993.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Jun 30, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000322020.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The V284A variant in the GABRA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The … (more)

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GABRA1 - - - -

Text-mined citations for rs794727962...

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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 Mar 07, 2021