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NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 5, 2019)
Last evaluated:
May 12, 2017
Accession:
VCV000429532.3
Variation ID:
429532
Description:
single nucleotide variant
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NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)

Allele ID
421264
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99874755 (GRCh38) GRCh38 UCSC
1: 100340311 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100340311C>T
NC_000001.11:g.99874755C>T
NM_000642.3:c.1027C>T MANE Select NP_000633.2:p.Arg343Trp missense
... more HGVS
Protein change
R343W, R327W
Other names
-
Canonical SPDI
NC_000001.11:99874754:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA341343170
dbSNP: rs1131691438
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 May 12, 2017 RCV000493598.1
Uncertain significance 1 no assertion criteria provided Jun 14, 2017 RCV000667797.1
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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
1281 1296

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 12, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000582123.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R343W variant was identified in a patient with glycogen storage disease type III who harbored a pathogenic variant on the other AGL allele (in … (more)
Uncertain significance
(Jun 14, 2017)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type III
Allele origin: unknown
Counsyl
Accession: SCV000792301.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (2)

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
Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations. Zhai L Nature communications 2016 PMID: 27088557
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

Text-mined citations for rs1131691438...

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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 Feb 27, 2021