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NM_000642.3(AGL):c.996C>A (p.His332Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 4, 2019
Accession:
VCV000862665.2
Variation ID:
862665
Description:
single nucleotide variant
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NM_000642.3(AGL):c.996C>A (p.His332Gln)

Allele ID
824577
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99874724 (GRCh38) GRCh38 UCSC
1: 100340280 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100340280C>A
NC_000001.11:g.99874724C>A
NG_012865.1:g.29641C>A
... more HGVS
Protein change
H316Q, H332Q
Other names
-
Canonical SPDI
NC_000001.11:99874723:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs780811320
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 4, 2019 RCV001069429.1
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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
1285 1300

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Apr 04, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001234593.2
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces histidine with glutamine at codon 332 of the AGL protein (p.His332Gln). The histidine residue is weakly conserved and there is a … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs780811320...

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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