NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu) AND Glucose-6-phosphate transport defect

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001362661.3

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)]

NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)

Gene:

SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)

HGVS:

NC_000011.10:g.119028426C>T
NG_013331.1:g.7481G>A
NM_001164277.2:c.149G>AMANE SELECT
NM_001164278.2:c.149G>A
NM_001164279.2:c.-71G>A
NM_001164280.2:c.149G>A
NM_001467.6:c.149G>A
NP_001157749.1:p.Gly50Glu
NP_001157749.1:p.Gly50Glu
NP_001157750.1:p.Gly50Glu
NP_001157752.1:p.Gly50Glu
NP_001458.1:p.Gly50Glu
LRG_187t1:c.149G>A
LRG_187:g.7481G>A
LRG_187p1:p.Gly50Glu
NC_000011.9:g.118899136C>T
NM_001164277.1:c.149G>A

Protein change:

G50E

Links:

UniProtKB/Swiss-Prot: VAR_066394; dbSNP: rs193302877

NCBI 1000 Genomes Browser:

rs193302877

Molecular consequence:

NM_001164279.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001164277.2:c.149G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164278.2:c.149G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164280.2:c.149G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001467.6:c.149G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glucose-6-phosphate transport defect (GSD1B)
Synonyms:: Glycogen storage disease type 1B; GSD Ib
Identifiers:: MONDO: MONDO:0009288; MedGen: C0268146; Orphanet: 364; Orphanet: 79259; OMIM: 232220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001558691	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 9, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 28224733, 21629566, 28224773, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001558691

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 9, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

NK1.1(-) CD4(+) NKG2D(+) T cells suppress DSS-induced colitis in mice through production of TGF-β.

Qian X, Hu C, Han S, Lin Z, Xiao W, Ding Y, Zhang Y, Qian L, Jia X, Zhu G, Gong W.

J Cell Mol Med. 2017 Jul;21(7):1431-1444. doi: 10.1111/jcmm.13072. Epub 2017 Feb 22.

PubMed [citation]

PMID:: 28224733
PMCID:: PMC5487917

A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

Dissanayake VH, Jayasinghe JD, Thilakaratne V, Jayasekara RW.

J Mol Genet Med. 2011;5:262-3. Epub 2011 May 18. No abstract available.

PubMed [citation]

PMID:: 21629566
PMCID:: PMC3104247

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001558691.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 50 of the SLC37A4 protein (p.Gly50Glu). This variant is present in population databases (rs193302877, gnomAD 0.004%). This missense change has been observed in individuals with glycogen storage disease type Ib (PMID: 21629566, 28224733, 28224773; Invitae). ClinVar contains an entry for this variant (Variation ID: 68272). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts the p.Gly50 amino acid residue in SLC37A4. Other variant(s) that disrupt this residue have been observed in individuals with SLC37A4-related conditions (PMID: 21629566, 28224773; Invitae), which suggests that this may be a clinically significant amino acid residue. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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