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NM_000151.4(G6PC1):c.757del (p.Ile253fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 1, 2020)
Last evaluated:
May 11, 2020
Accession:
VCV000932198.1
Variation ID:
932198
Description:
1bp deletion
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NM_000151.4(G6PC1):c.757del (p.Ile253fs)

Allele ID
920503
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42911109 (GRCh38) GRCh38 UCSC
17: 41063126 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41063126del
NC_000017.11:g.42911109del
NM_000151.4:c.757del MANE Select NP_000142.2:p.Ile253fs frameshift
... more HGVS
Protein change
I253fs
Other names
-
Canonical SPDI
NC_000017.11:42911108:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 11, 2020 RCV001199904.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(May 11, 2020)
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: SCV001370661.1
Submitted: (Jul 01, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: G6PC c.757delA (p.Ile253LeufsX48) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (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
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Chou JY Human mutation 2008 PMID: 18449899
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Chou JY Current molecular medicine 2002 PMID: 11949931
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

Record last updated Jun 14, 2021