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NM_000817.3(GAD1):c.80C>A (p.Thr27Lys)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3
First in ClinVar:
Sep 14, 2018
Most recent Submission:
May 16, 2022
Last evaluated:
Aug 7, 2020
Accession:
VCV000560641.9
Variation ID:
560641
Description:
single nucleotide variant
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NM_000817.3(GAD1):c.80C>A (p.Thr27Lys)

Allele ID
551695
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.1
Genomic location
2: 170818671 (GRCh38) GRCh38 UCSC
2: 171675181 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000817.3:c.80C>A MANE Select NP_000808.2:p.Thr27Lys missense
NM_013445.4:c.80C>A NP_038473.2:p.Thr27Lys missense
NC_000002.12:g.170818671C>A
... more HGVS
Protein change
T27K
Other names
-
Canonical SPDI
NC_000002.12:170818670:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00075
The Genome Aggregation Database (gnomAD), exomes 0.00076
The Genome Aggregation Database (gnomAD) 0.00015
The Genome Aggregation Database (gnomAD) 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00072
1000 Genomes Project 0.00180
Trans-Omics for Precision Medicine (TOPMed) 0.00040
Links
dbSNP: rs77655188
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 7, 2020 RCV001836861.5
Uncertain significance 1 no assertion criteria provided Aug 3, 2017 RCV000678798.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GAD1 - - GRCh38
GRCh37
167 189

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
None
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001294702.1
First in ClinVar: May 31, 2020
Last updated: May 31, 2020
Publications:
PubMed (1)
PubMed: 22662185
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Aug 07, 2020)
criteria provided, single submitter
Method: clinical testing
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001603644.2
First in ClinVar: May 16, 2021
Last updated: May 16, 2022
Uncertain significance
(Aug 03, 2017)
no assertion criteria provided
Method: clinical testing
Infantile spasms
Affected status: yes
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000804979.1
First in ClinVar: Sep 14, 2018
Last updated: Sep 14, 2018

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
Gender differences in associations of glutamate decarboxylase 1 gene (GAD1) variants with panic disorder. Weber H PloS one 2012 PMID: 22662185

Text-mined citations for rs77655188...

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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 Jan 21, 2023