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NM_000151.4(G6PC1):c.231-1G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 24, 2020
Accession:
VCV000549978.2
Variation ID:
549978
Description:
single nucleotide variant
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NM_000151.4(G6PC1):c.231-1G>A

Allele ID
548511
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42903930 (GRCh38) GRCh38 UCSC
17: 41055947 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_147:g.8133G>A
NC_000017.10:g.41055947G>A
NC_000017.11:g.42903930G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:42903929:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555559279
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 2 criteria provided, multiple submitters, no conflicts Aug 24, 2020 RCV000664578.2
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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
(Apr 24, 2017)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: unknown
Counsyl
Accession: SCV000788565.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 24, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: germline
Invitae
Accession: SCV001582072.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 1 of the G6PC gene. It is expected to disrupt RNA splicing and likely results … (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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Title Author Journal Year Link
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Akanuma J American journal of medical genetics 2000 PMID: 10748407
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

Text-mined citations for rs1555559279...

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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 Oct 08, 2021