Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 10, 2022)
Last evaluated:
Jul 15, 2021
Accession:
VCV000551403.3
Variation ID:
551403
Description:
single nucleotide variant
Help

NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)

Allele ID
541417
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99892583 (GRCh38) GRCh38 UCSC
1: 100358139 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100358139C>T
NC_000001.11:g.99892583C>T
NG_012865.1:g.47500C>T
... more HGVS
Protein change
Q1079*, Q1063*
Other names
-
Canonical SPDI
NC_000001.11:99892582:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Links
dbSNP: rs1553188849
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Jul 15, 2021 RCV000666456.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AGL - - GRCh38
GRCh37
1286 1301

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Apr 06, 2017)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000790752.1
Submitted: (Jul 10, 2018)
Publications:
PubMed (1)
PubMed: 26885414
Pathogenic
(Mar 19, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001587458.1
Submitted: (Jan 07, 2021)
Publications:
PubMed (2)
PubMed: 2688541419299494
Comment:
This sequence change creates a premature translational stop signal (p.Gln1079*) in the AGL gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jul 15, 2021)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: no
Allele origin: germline
Nilou-Genome Lab
Accession: SCV002055495.1
Submitted: (Jan 10, 2022)

Functional evidence

Help
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

Help
Title Author Journal Year Link
A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. Zimmermann A Case reports in genetics 2016 PMID: 26885414
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. Cheng A Human molecular genetics 2009 PMID: 19299494

Text-mined citations for rs1553188849...

Help
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 12, 2022