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NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 5, 2021)
Last evaluated:
Aug 2, 2021
Accession:
VCV000012001.4
Variation ID:
12001
Description:
single nucleotide variant
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NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)

Allele ID
27040
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42901105 (GRCh38) GRCh38 UCSC
17: 41053122 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41053122T>C
NC_000017.11:g.42901105T>C
NM_000151.4:c.229T>C MANE Select NP_000142.2:p.Trp77Arg missense
... more HGVS
Protein change
W77R
Other names
G6PC, TRP77ARG
Canonical SPDI
NC_000017.11:42901104:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA256181
UniProtKB: P35575#VAR_005238
OMIM: 613742.0007
dbSNP: rs104894566
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Aug 2, 2021 RCV000012781.11
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
G6PC1 - - GRCh38
GRCh37
294 302

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 29, 2014)
criteria provided, single submitter
Method: literature only
Glycogen storage disease type 1A
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220994.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (8)
Pathogenic
(Apr 18, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: germline
Invitae
Accession: SCV001201510.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces tryptophan with arginine at codon 77 of the G6PC protein (p.Trp77Arg). The tryptophan residue is highly conserved and there is a … (more)
Pathogenic
(Aug 02, 2021)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001774622.1
Submitted: (Aug 05, 2021)
Evidence details
Publications
PubMed (7)
Comment:
Variant summary: G6PC c.229T>C (p.Trp77Arg) results in a non-conservative amino acid change located in the phosphatidic acid phosphate type 2/haloperoxidase domain (IPR000326) of the encoded … (more)
Pathogenic
(May 01, 1996)
no assertion criteria provided
Method: literature only
GLYCOGEN STORAGE DISEASE Ia
Allele origin: germline
OMIM
Accession: SCV000033021.3
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
Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly. Quackenbush D Journal of pediatric endocrinology & metabolism : JPEM 2018 PMID: 29374762
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray. Eminoglu TF Gene 2013 PMID: 23352793
Mutation spectrum of type I glycogen storage disease in Hungary. Miltenberger-Miltenyi G Journal of inherited metabolic disease 2005 PMID: 16435186
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Matern D European journal of pediatrics 2002 PMID: 12373566
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
Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia. Terzioglu M Journal of inherited metabolic disease 2001 PMID: 11916325
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5. Kozák L Human mutation 2000 PMID: 10874313
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a. Bruni N Annals of human genetics 1999 PMID: 10738525
Mutation analysis in 24 French patients with glycogen storage disease type 1a. Chevalier-Porst F Journal of medical genetics 1996 PMID: 8733042

Text-mined citations for rs104894566...

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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 Aug 11, 2021