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NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 6, 2020)
Last evaluated:
Oct 17, 2019
Accession:
VCV000928928.1
Variation ID:
928928
Description:
single nucleotide variant
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NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)

Allele ID
917244
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42909335 (GRCh38) GRCh38 UCSC
17: 41061352 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41061352G>A
NC_000017.11:g.42909335G>A
NM_000151.4:c.479G>A MANE Select NP_000142.2:p.Trp160Ter nonsense
... more HGVS
Protein change
W160*
Other names
-
Canonical SPDI
NC_000017.11:42909334:G: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 Oct 17, 2019 RCV001193577.1
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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
(Oct 17, 2019)
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: SCV001362496.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: G6PC c.479G>A (p.Trp160X) 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
Molecular diagnosis of glycogen storage disease type I: a review. Beyzaei Z EXCLI journal 2019 PMID: 30956637
Rapid detection of glycogen storage disease type Ia by DNA microarray. Xu S Clinical chemistry and laboratory medicine 2010 PMID: 20509832

Record last updated Jun 14, 2021