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NM_021957.4(GYS2):c.1774C>G (p.Leu592Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 4, 2018
Accession:
VCV000653240.1
Variation ID:
653240
Description:
single nucleotide variant
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NM_021957.4(GYS2):c.1774C>G (p.Leu592Val)

Allele ID
641013
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p12.1
Genomic location
12: 21540445 (GRCh38) GRCh38 UCSC
12: 21693379 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.21693379G>C
NC_000012.12:g.21540445G>C
NG_016167.1:g.69403C>G
... more HGVS
Protein change
L592V
Other names
-
Canonical SPDI
NC_000012.12:21540444:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00005
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00004
Links
dbSNP: rs202136674
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 Dec 4, 2018 RCV000808979.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GYS2 - - GRCh38
GRCh37
204 242

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 04, 2018)
criteria provided, single submitter
Method: clinical testing
Hypoglycemia with deficiency of glycogen synthetase in the liver
Allele origin: germline
Invitae
Accession: SCV000949113.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces leucine with valine at codon 592 of the GYS2 protein (p.Leu592Val). The leucine 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.

Text-mined citations for rs202136674...

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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