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NM_000642.3(AGL):c.3283A>C (p.Ile1095Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Feb 19, 2018
Accession:
VCV000580006.1
Variation ID:
580006
Description:
single nucleotide variant
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NM_000642.3(AGL):c.3283A>C (p.Ile1095Leu)

Allele ID
557404
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99896309 (GRCh38) GRCh38 UCSC
1: 100361865 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100361865A>C
NC_000001.11:g.99896309A>C
NG_012865.1:g.51226A>C
... more HGVS
Protein change
I1095L, I1079L
Other names
-
Canonical SPDI
NC_000001.11:99896308:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs762157090
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 Feb 19, 2018 RCV000703426.1
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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
(Feb 19, 2018)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000832324.1
Submitted: (Aug 29, 2018)
Publications:
PubMed (1)
PubMed: 28492532
Comment:
This sequence change replaces isoleucine with leucine at codon 1095 of the AGL protein (p.Ile1095Leu). The isoleucine 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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs762157090...

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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