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NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)

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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:
May 31, 2019
Accession:
VCV000558339.3
Variation ID:
558339
Description:
single nucleotide variant
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NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)

Allele ID
548519
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42909372 (GRCh38) GRCh38 UCSC
17: 41061389 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_147:g.13575C>A
NC_000017.10:g.41061389C>A
NC_000017.11:g.42909372C>A
... more HGVS
Protein change
P147T, Y172*
Other names
-
Canonical SPDI
NC_000017.11:42909371:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555559991
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 May 31, 2019 RCV000674590.3
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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 14, 2018)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: unknown
Counsyl
Accession: SCV000799952.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(May 31, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: germline
Invitae
Accession: SCV001378072.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Tyr172*) in the G6PC gene. It is expected to result in an absent or disrupted 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 gene of 53 Italian patients with glycogen storage disease type Ia. Stroppiano M Journal of inherited metabolic disease 1999 PMID: 10070617
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 rs1555559991...

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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