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NM_000642.3(AGL):c.3911dup (p.Asn1304fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Nov 19, 2021)
Last evaluated:
Sep 21, 2020
Accession:
VCV000370832.10
Variation ID:
370832
Description:
1bp duplication
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NM_000642.3(AGL):c.3911dup (p.Asn1304fs)

Allele ID
357222
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99912471-99912472 (GRCh38) GRCh38 UCSC
1: 100378027-100378028 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000642.3:c.3911dupA MANE Select
NM_000642.3:c.3903_3904insA MANE Select
NC_000001.10:g.100378035dup
... more HGVS
Protein change
N1304fs, N1288fs
Other names
-
Canonical SPDI
NC_000001.11:99912471:AAAAAAAA:AAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA967260
dbSNP: rs745757264
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 6 criteria provided, multiple submitters, no conflicts Sep 21, 2020 RCV000412031.11
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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
1284 1299

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 21, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363064.2
Submitted: (Oct 06, 2020)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: AGL c.3911dupA (p.Asn1304LysfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Likely pathogenic
(Aug 27, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
(Autosomal recessive inheritance)
Allele origin: inherited
Centre for Human Genetics
Accession: SCV001482490.1
Submitted: (Feb 17, 2021)
Evidence details
Comment:
disease causing
Pathogenic
(Aug 14, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Allele origin: germline
Invitae
Accession: SCV000626744.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Asn1304Lysfs*7) in the AGL gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Apr 21, 2016)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type III
Allele origin: unknown
Counsyl
Accession: SCV000486246.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (3)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type III
Allele origin: germline
Natera, Inc.
Accession: SCV001456552.1
Submitted: (Dec 28, 2020)
Evidence details
Pathogenic
(Dec 07, 2020)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type III
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002023692.1
Submitted: (Nov 19, 2021)
Evidence details

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
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation. Ponzi E Molecular genetics & genomic medicine 2019 PMID: 30916492
Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease. Lee TM JIMD reports 2011 PMID: 23430832
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
Mutational analysis of the AGL gene: five novel mutations in GSD III patients. Lucchiari S Human mutation 2003 PMID: 12955720
Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient. Parvari R Journal of inherited metabolic disease 1998 PMID: 9584265

Text-mined citations for rs745757264...

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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 28, 2021