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NM_000151.4(G6PC):c.247C>T (p.Arg83Cys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
15 (Most recent: Jun 18, 2019)
Last evaluated:
Jan 7, 2019
Accession:
VCV000011998.5
Variation ID:
11998
Description:
single nucleotide variant
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NM_000151.4(G6PC):c.247C>T (p.Arg83Cys)

Allele ID
27037
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42903947 (GRCh38) GRCh38 UCSC
17: 41055964 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41055964C>T
NC_000017.11:g.42903947C>T
NM_000151.4:c.247C>T NP_000142.2:p.Arg83Cys missense
... more HGVS
Protein change
R83C
Other names
G6PC, ARG83CYS
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00053
The Genome Aggregation Database (gnomAD), exomes 0.00057
Trans-Omics for Precision Medicine (TOPMed) 0.00038
The Genome Aggregation Database (gnomAD) 0.00022
Links
ClinGen: CA256177
UniProtKB: P35575#VAR_005239
OMIM: 613742.0002
dbSNP: rs1801175
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 10 criteria provided, multiple submitters, no conflicts Jan 7, 2019 RCV000012778.13
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jan 4, 2019 RCV000424594.5
Pathogenic 1 criteria provided, single submitter Jun 6, 2016 RCV000360229.3
Pathogenic 1 criteria provided, single submitter Jan 1, 2017 RCV000626623.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
G6PC - - GRCh38
GRCh37
145 153

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 15, 2014)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type 1A
(Autosomal recessive inheritance)
Allele origin: germline
Knight Diagnostic Laboratories,Oregon Health and Sciences University
Accession: SCV000223927.1
Submitted: (May 29, 2015)
Evidence details
Pathogenic
(Dec 18, 2015)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type 1A
Allele origin: unknown
Counsyl
Accession: SCV000485167.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Jun 27, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000227025.5
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (2)
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(Jan 04, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000520992.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R83C variant in the G6PC gene has been reported previously as one of the most common variants causing GSD1a (Ekstein et al., 2004; Chou ... (more)
Pathogenic
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type 1A
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000402976.3
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (11)
Comment:
The G6PC c.247C>T (p.Arg83Cys) variant is widely reported in the literature as a pathogenic variant for glycogen storage disease type I. The variant has been ... (more)
Pathogenic
(May 13, 2016)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type 1A
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000695636.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: The G6PC c.247C>T (p.Arg83Cys) variant involves the alteration of a conserved nucleotide resulting in a replacement of and Arginine with a Cystein located ... (more)
Pathogenic
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
Hypoglycemia
Short stature
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747324.1
Submitted: (Dec 08, 2017)
Evidence details
Pathogenic
(Mar 05, 2018)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type 1A
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000784537.1
Submitted: (Mar 05, 2018)
Evidence details
Pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type 1A
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894121.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Pathogenic
(Jan 07, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type 1A
Allele origin: germline
Invitae
Accession: SCV000658103.3
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (9)
Comment:
This sequence change replaces arginine with cysteine at codon 83 of the G6PC protein (p.Arg83Cys). The arginine residue is highly conserved and there is a ... (more)
Pathogenic
(Jun 06, 2016)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000712202.1
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The p.Arg83Cys variant in G6PC is the most frequent pathogenic variant implicate d in Glycogen storage disease type I in the Ashkenazi Jewish population (Parvari ... (more)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type 1A
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV000996289.1
Submitted: (Jun 18, 2019)
Evidence details
Pathogenic
(Aug 30, 2004)
no assertion criteria provided
Method: literature only
GLYCOGEN STORAGE DISEASE Ia
Allele origin: germline
OMIM
Accession: SCV000033018.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (7)
Pathogenic
(Aug 25, 2016)
no assertion criteria provided
Method: literature only
Glycogen storage disease type 1A
Allele origin: germline
GeneReviews
Accession: SCV000040456.2
Submitted: (Aug 25, 2016)
Evidence details
Other databases
http://www.ncbi.nlm.nih.gov/bo...
Pathogenic
(Sep 21, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
Accession: SCV000801484.1
Submitted: (May 23, 2018)
Evidence details

Citations for this variant

Title Author Journal Year Link
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. Peeks F Journal of inherited metabolic disease 2017 PMID: 28397058
Glycogen Storage Disease Type I Bali DS - 2016 PMID: 20301489
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. Beegle RD JIMD reports 2015 PMID: 25308557
Disease variants in genomes of 44 centenarians. Freudenberg-Hua Y Molecular genetics & genomic medicine 2014 PMID: 25333069
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib. Carlin MP Genetics and molecular biology 2013 PMID: 24385852
Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism. Sever S Journal of clinical lipidology 2012 PMID: 23312056
Glucose-6-phosphatase deficiency. Froissart R Orphanet journal of rare diseases 2011 PMID: 21599942
Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis. Barkaoui E Journal of inherited metabolic disease 2007 PMID: 18008183
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Ekstein J American journal of medical genetics. Part A 2004 PMID: 15316959
The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. Shieh JJ The Journal of biological chemistry 2002 PMID: 11739393
Glycogen storage disease type Ia: molecular study in Brazilian patients. de C Reis F Journal of human genetics 2001 PMID: 11310582
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart. Rake JP European journal of pediatrics 2000 PMID: 10834516
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. Seydewitz HH Human mutation 2000 PMID: 10612834
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. Parvari R American journal of medical genetics 1997 PMID: 9332655
Molecular prenatal diagnosis of glycogen storage disease type Ia. Qu Y Prenatal diagnosis 1996 PMID: 8734807
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. Lei KJ The Journal of clinical investigation 1995 PMID: 7814621
Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. Lei KJ The Journal of biological chemistry 1995 PMID: 7744838
Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. Parvari R Journal of inherited metabolic disease 1995 PMID: 7623438
Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Lei KJ American journal of human genetics 1995 PMID: 7573034
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. Lei KJ The Journal of clinical investigation 1994 PMID: 8182131
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Lei KJ Science (New York, N.Y.) 1993 PMID: 8211187
Diagnosis of a novel glycogen storage disease: type 1aSP. Burchell A Journal of inherited metabolic disease 1990 PMID: 2172641
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=G6PC - - - -
http://www.ncbi.nlm.nih.gov/books/NBK1312/ - - - -

Record last updated Oct 27, 2019