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NM_000642.3(AGL):c.3363-1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Feb 18, 2016
Accession:
VCV000370470.1
Variation ID:
370470
Description:
single nucleotide variant
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NM_000642.3(AGL):c.3363-1G>A

Allele ID
357217
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99900635 (GRCh38) GRCh38 UCSC
1: 100366191 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100366191G>A
NC_000001.11:g.99900635G>A
NG_012865.1:g.55552G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:99900634:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16040843
dbSNP: rs1057516513
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 18, 2016 RCV000409092.1
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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
Likely pathogenic
(Feb 18, 2016)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Allele origin: unknown
Counsyl
Accession: SCV000485803.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)

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
[Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle]. Wang W Zhonghua er ke za zhi = Chinese journal of pediatrics 2009 PMID: 19951495

Text-mined citations for rs1057516513...

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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