Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Dec 28, 2020)
Last evaluated:
Oct 16, 2018
Accession:
VCV000188762.4
Variation ID:
188762
Description:
single nucleotide variant
Help

NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)

Allele ID
186807
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119026979 (GRCh38) GRCh38 UCSC
11: 118897689 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_187:g.8927C>T
LRG_187t1:c.742C>T LRG_187p1:p.Gln248Ter
NC_000011.10:g.119026979G>A
... more HGVS
Protein change
Q248*, Q175*
Other names
-
Canonical SPDI
NC_000011.10:119026978:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA273924
dbSNP: rs781784543
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 16, 2018 RCV000169082.4
Pathogenic 1 criteria provided, single submitter Jul 20, 2018 RCV000300702.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC37A4 - - GRCh38
GRCh38
GRCh37
686 719

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 21, 2014)
criteria provided, single submitter
Method: literature only
Glucose-6-phosphate transport defect
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220256.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (6)
Pathogenic
(Jul 20, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000330663.5
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The Q248X pathogenic variant in the SLC37A4 gene has been reported previously in association with glycogen storage disease type 1b when present in the homozygous … (more)
Pathogenic
(Jul 28, 2016)
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: SCV000697757.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: The SLC37A4 c.742C>T (p.Gln248X) variant results in a premature termination codon, predicted to cause a truncated or absent SLC37A4 protein due to nonsense … (more)
Pathogenic
(Oct 16, 2018)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Invitae
Accession: SCV000949803.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Gln248*) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type Ib
Allele origin: germline
Natera, Inc.
Accession: SCV001457665.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. Jun HS Blood 2014 PMID: 24565827
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? Melis D Journal of inherited metabolic disease 2008 PMID: 18437526
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Melis D European journal of pediatrics 2005 PMID: 15906092
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Matern D European journal of pediatrics 2002 PMID: 12373566
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. Hiraiwa H The Journal of biological chemistry 1999 PMID: 10026167
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Veiga-da-Cunha M American journal of human genetics 1998 PMID: 9758626

Text-mined citations for rs781784543...

Help
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