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NM_000642.3(AGL):c.3818G>T (p.Gly1273Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 29, 2020
Accession:
VCV001055299.1
Variation ID:
1055299
Description:
single nucleotide variant
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NM_000642.3(AGL):c.3818G>T (p.Gly1273Val)

Allele ID
1040436
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99910829 (GRCh38) GRCh38 UCSC
1: 100376385 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100376385G>T
NC_000001.11:g.99910829G>T
NM_000642.3:c.3818G>T MANE Select NP_000633.2:p.Gly1273Val missense
... more HGVS
Protein change
G1257V, G1273V
Other names
-
Canonical SPDI
NC_000001.11:99910828:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jan 29, 2020 RCV001363944.1
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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
1286 1301

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jan 29, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001560076.1
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces glycine with valine at codon 1273 of the AGL protein (p.Gly1273Val). The glycine residue is highly 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.

Record last updated Apr 18, 2021