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NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 28, 2020)
Last evaluated:
Nov 9, 2018
Accession:
VCV000526593.3
Variation ID:
526593
Description:
single nucleotide variant
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NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp)

Allele ID
516281
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99912458 (GRCh38) GRCh38 UCSC
1: 100378014 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100378014T>G
NC_000001.11:g.99912458T>G
NG_012865.1:g.67375T>G
... more HGVS
Protein change
L1297W, L1281W
Other names
-
Canonical SPDI
NC_000001.11:99912457:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00004
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA967257
dbSNP: rs749445010
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Nov 9, 2018 RCV000631154.3
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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
1286 1301

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Nov 09, 2018)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000752153.2
Submitted: (Mar 28, 2019)
Comment:
This sequence change replaces leucine with tryptophan at codon 1297 of the AGL protein (p.Leu1297Trp). The leucine residue is highly conserved and there is a … (more)
Uncertain significance
(Oct 28, 2019)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Natera, Inc.
Accession: SCV001459023.1
Submitted: (Dec 28, 2020)

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 rs749445010...

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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