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NM_000642.3(AGL):c.2357C>T (p.Thr786Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 10, 2022)
Last evaluated:
Jul 15, 2021
Accession:
VCV000946738.5
Variation ID:
946738
Description:
single nucleotide variant
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NM_000642.3(AGL):c.2357C>T (p.Thr786Met)

Allele ID
922193
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99884168 (GRCh38) GRCh38 UCSC
1: 100349724 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100349724C>T
NC_000001.11:g.99884168C>T
NG_012865.1:g.39085C>T
... more HGVS
Protein change
T786M, T770M
Other names
-
Canonical SPDI
NC_000001.11:99884167:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
dbSNP: rs147586981
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, multiple submitters, no conflicts Jul 15, 2021 RCV001217663.3
Uncertain significance 1 criteria provided, single submitter Feb 1, 2021 RCV001545842.2
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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
(Aug 25, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001389512.2
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces threonine with methionine at codon 786 of the AGL protein (p.Thr786Met). The threonine residue is weakly conserved and there is a … (more)
Uncertain significance
(Feb 01, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001765250.1
Submitted: (Aug 03, 2021)
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter … (more)
Uncertain significance
(Jul 15, 2021)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: no
Allele origin: germline
Nilou-Genome Lab
Accession: SCV002055111.1
Submitted: (Jan 10, 2022)

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 rs147586981...

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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 Jan 12, 2022