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NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 14, 2020
Accession:
VCV001068342.1
Variation ID:
1068342
Description:
single nucleotide variant
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NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)

Allele ID
1056431
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42911144 (GRCh38) GRCh38 UCSC
17: 41063161 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NG_011808.1:g.15347C>G
NM_000151.4:c.792C>G MANE Select NP_000142.2:p.Asn264Lys missense
NM_001270397.2:c.*184C>G 3 prime UTR
... more HGVS
Protein change
N264K
Other names
-
Canonical SPDI
NC_000017.11:42911143:C:G
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 Aug 14, 2020 RCV001379867.1
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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
(Aug 14, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: germline
Invitae
Accession: SCV001577750.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces asparagine with lysine at codon 264 of the G6PC protein (p.Asn264Lys). The asparagine 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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Title Author Journal Year Link
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
A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. Keller KM The Journal of pediatrics 1998 PMID: 9506659

Record last updated Oct 08, 2021