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NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 29, 2020)
Last evaluated:
Feb 17, 2020
Accession:
VCV000917676.1
Variation ID:
917676
Description:
single nucleotide variant
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NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)

Allele ID
906021
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119028341 (GRCh38) GRCh38 UCSC
11: 118899051 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_187:g.7566G>A
LRG_187t1:c.234G>A LRG_187p1:p.Trp78Ter
NC_000011.10:g.119028341C>T
... more HGVS
Protein change
W5*, W78*
Other names
-
Canonical SPDI
NC_000011.10:119028340:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs781857990
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 Feb 17, 2020 RCV001174813.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC37A4 - - GRCh38
GRCh38
GRCh37
687 720

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 17, 2020)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001338164.1
Submitted: (Apr 29, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: SLC37A4 c.234G>A (p.Trp78X) 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
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Veiga-da-Cunha M European journal of human genetics : EJHG 1999 PMID: 10482962

Text-mined citations for rs781857990...

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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 Dec 04, 2021