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NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Dec 28, 2020)
Last evaluated:
Aug 15, 2018
Accession:
VCV000006933.4
Variation ID:
6933
Description:
single nucleotide variant
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NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)

Allele ID
21972
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119029287 (GRCh38) GRCh38 UCSC
11: 118899997 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NG_013331.1:g.6620G>A
NM_001164277.2:c.83G>A NP_001157749.1:p.Arg28His missense
NM_001164278.2:c.83G>A NP_001157750.1:p.Arg28His missense
... more HGVS
Protein change
R28H
Other names
-
Canonical SPDI
NC_000011.10:119029286:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
UniProtKB/Swiss-Prot: VAR_016840
OMIM: 602671.0013
dbSNP: rs121908978
ClinGen: CA219358
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 4 criteria provided, multiple submitters, no conflicts Aug 15, 2018 RCV000007345.6
not provided 1 no assertion provided - RCV000059144.1
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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
686 719

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 18, 2017)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: unknown
Counsyl
Accession: SCV000793511.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (6)
Pathogenic
(Aug 15, 2018)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Invitae
Accession: SCV000960555.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change replaces arginine with histidine at codon 28 of the SLC37A4 protein (p.Arg28His). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Feb 26, 1999)
no assertion criteria provided
Method: literature only
GLYCOGEN STORAGE DISEASE Ib
Allele origin: germline
OMIM
Accession: SCV000027543.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type Ib
Allele origin: germline
Natera, Inc.
Accession: SCV001457673.1
Submitted: (Dec 28, 2020)
Evidence details
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: germline
UniProtKB/Swiss-Prot
Accession: SCV000090673.1
Submitted: (Sep 27, 2011)
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
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. Choi R Annals of laboratory medicine 2017 PMID: 28224773
Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b. Lee KJ Pediatric gastroenterology, hepatology & nutrition 2016 PMID: 27066451
Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step. Ahn HH FEBS letters 2015 PMID: 25982172
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib. Chen SY Molecular genetics and metabolism 2008 PMID: 18835800
The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. Chen SY FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008 PMID: 18337460
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. Melis D The Journal of pediatrics 2007 PMID: 17307551
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib. Chen LY Human molecular genetics 2002 PMID: 12444104
Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter. Chen LY The Journal of biological chemistry 2000 PMID: 10940311
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. Galli L FEBS letters 1999 PMID: 10518030
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. Hiraiwa H The Journal of biological chemistry 1999 PMID: 10026167

Text-mined citations for rs121908978...

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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 24, 2021