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NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 5, 2019)
Last evaluated:
May 28, 2017
Accession:
VCV000502134.2
Variation ID:
502134
Description:
single nucleotide variant
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NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)

Allele ID
493558
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42903958 (GRCh38) GRCh38 UCSC
17: 41055975 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_147:g.8161G>A
NC_000017.10:g.41055975G>A
NC_000017.11:g.42903958G>A
... more HGVS
Protein change
W86*
Other names
-
Canonical SPDI
NC_000017.11:42903957:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA290785345
dbSNP: rs142917638
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 28, 2017 RCV000595590.1
Likely pathogenic 1 no assertion criteria provided May 17, 2016 RCV000984266.1
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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
Pathogenic
(May 28, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000708758.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(May 17, 2016)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: unknown
Counsyl
Accession: SCV001132393.1
Submitted: (Aug 05, 2019)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=G6PC - - - -

Text-mined citations for rs142917638...

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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