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NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 1, 2019)
Last evaluated:
Sep 7, 2017
Accession:
VCV000016053.2
Variation ID:
16053
Description:
single nucleotide variant
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NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)

Allele ID
31092
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p12.1
Genomic location
12: 21546421 (GRCh38) GRCh38 UCSC
12: 21699355 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P54840:p.Met491Arg
NC_000012.11:g.21699355A>C
NC_000012.12:g.21546421A>C
... more HGVS
Protein change
M491R
Other names
-
Canonical SPDI
NC_000012.12:21546420:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA126172
UniProtKB: P54840#VAR_007865
OMIM: 138571.0005
dbSNP: rs121918422
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 Sep 7, 2017 RCV000017431.29
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GYS2 - - GRCh38
GRCh37
203 241

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 07, 2017)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to hepatic glycogen synthase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000914578.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The GYS2 c.1472T>G (p.Met491Arg) missense variant has been reported in a single study in one individual with glycogen storage disease type 0, liver, in a … (more)
Pathogenic
(Aug 01, 1998)
no assertion criteria provided
Method: literature only
GLYCOGEN STORAGE DISEASE 0, LIVER
Allele origin: germline
OMIM
Accession: SCV000037703.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. Orho M The Journal of clinical investigation 1998 PMID: 9691087

Text-mined citations for rs121918422...

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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