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NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 15, 2020
Accession:
VCV000656738.3
Variation ID:
656738
Description:
single nucleotide variant
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NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter)

Allele ID
628361
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99921577 (GRCh38) GRCh38 UCSC
1: 100387133 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100387133C>T
NC_000001.11:g.99921577C>T
NG_012865.1:g.76494C>T
... more HGVS
Protein change
Q1493*, Q1509*
Other names
-
Canonical SPDI
NC_000001.11:99921576:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1480850606
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 15, 2020 RCV000813231.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AGL - - GRCh38
GRCh37
1285 1300

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Sep 15, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000953580.3
Submitted: (Jan 07, 2021)
Publications:
PubMed (4)
PubMed: 8990006234304902007199620490926
Comment:
This sequence change results in a premature translational stop signal in the AGL gene (p.Gln1509*). While this is not anticipated to result in nonsense mediated … (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
Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. Sentner CP JIMD reports 2013 PMID: 23430490
Glycogen storage disease type III in the Irish population. Crushell E Journal of inherited metabolic disease 2010 PMID: 20490926
The electrodiagnostic characteristics of Glycogen Storage Disease Type III. Hobson-Webb LD Genetics in medicine : official journal of the American College of Medical Genetics 2010 PMID: 20071996
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. Shen J Human mutation 1997 PMID: 8990006

Text-mined citations for rs1480850606...

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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 Nov 27, 2021