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NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 19, 2019
Accession:
VCV000952976.2
Variation ID:
952976
Description:
single nucleotide variant
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NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)

Allele ID
928270
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42911173 (GRCh38) GRCh38 UCSC
17: 41063190 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_147:g.15376C>T
NC_000017.10:g.41063190C>T
NC_000017.11:g.42911173C>T
... more HGVS
Protein change
A274V
Other names
-
Canonical SPDI
NC_000017.11:42911172:C:T
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 Jun 19, 2019 RCV001225198.2
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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
(Jun 19, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: germline
Invitae
Accession: SCV001397439.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces alanine with valine at codon 274 of the G6PC protein (p.Ala274Val). The alanine 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
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
Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia. Zheng BX European journal of pediatrics 2015 PMID: 24980439

Record last updated Oct 08, 2021