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NM_000642.3(AGL):c.1038T>A (p.Cys346Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 30, 2020)
Last evaluated:
Apr 15, 2019
Accession:
VCV000984154.1
Variation ID:
984154
Description:
single nucleotide variant
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NM_000642.3(AGL):c.1038T>A (p.Cys346Ter)

Allele ID
971693
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99874766 (GRCh38) GRCh38 UCSC
1: 100340322 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100340322T>A
NC_000001.11:g.99874766T>A
NG_012865.1:g.29683T>A
... more HGVS
Protein change
C330*, C346*
Other names
-
Canonical SPDI
NC_000001.11:99874765:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1651358664
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 no assertion criteria provided Apr 15, 2019 RCV001264162.1
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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
1284 1299

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 15, 2019)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type III
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001442263.1
Submitted: (Oct 30, 2020)
Comment:
NM_000642.2(AGL):c.1038T>A(C346*) is expected to be pathogenic in the context of glycogen storage disease type III. This variant is predicted to lead to an abnormal or … (more)
Evidence details

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 rs1651358664...

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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