NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) AND Glycogen storage disease type 1 due to SLC37A4 mutation

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 5, 2022
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:: RCV001813754.3

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)]

NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)

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.899G>A (p.Arg300His)

HGVS:

NC_000011.10:g.119026052C>T
NG_013331.1:g.9854G>A
NM_001164277.2:c.899G>AMANE SELECT
NM_001164278.2:c.899G>A
NM_001164279.2:c.680G>A
NM_001164280.2:c.899G>A
NM_001467.6:c.899G>A
NP_001157749.1:p.Arg300His
NP_001157749.1:p.Arg300His
NP_001157750.1:p.Arg300His
NP_001157751.1:p.Arg227His
NP_001157752.1:p.Arg300His
NP_001458.1:p.Arg300His
LRG_187t1:c.899G>A
LRG_187:g.9854G>A
LRG_187p1:p.Arg300His
NC_000011.9:g.118896762C>T
NM_001164277.1:c.899G>A

Protein change:

R227H

Links:

UniProtKB/Swiss-Prot: VAR_025599; dbSNP: rs193302903

NCBI 1000 Genomes Browser:

rs193302903

Molecular consequence:

NM_001164277.2:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164278.2:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164279.2:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164280.2:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001467.6:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Glycogen storage disease type 1 due to SLC37A4 mutation
Synonyms:: Glucose-6-phosphate translocase deficiency; G6P translocase deficiency
Identifiers:: MONDO: MONDO:0023258; MedGen: C2931345

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002061210	DASA	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 5, 2022)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 15906092, 9781688, 12444104, 10940311, 10508514, 23810759, 28394482, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002061210

DASA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 5, 2022)

germline

clinical testing

PubMed (8)
[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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A.

Eur J Pediatr. 2005 Aug;164(8):501-8. Epub 2005 May 19. Review.

PubMed [citation]

PMID:: 15906092

Structure and mutation analysis of the glycogen storage disease type 1b gene.

Marcolongo P, Barone V, Priori G, Pirola B, Giglio S, Biasucci G, Zammarchi E, Parenti G, Burchell A, Benedetti A, Sorrentino V.

FEBS Lett. 1998 Oct 2;436(2):247-50. Erratum in: FEBS Lett 1999 Feb 26;445(2-3):451.

PubMed [citation]

PMID:: 9781688

See all PubMed Citations (8)

Details of each submission

From DASA, SCV002061210.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (8)

Description

The c.899G>A;p.(Arg300His) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID:68294; PMID: 15906092; 9781688) - PS4_moderateWell-established in vitro or in vivo functional studies support a damaging effect on the gene or gene product (PMID: 12444104; 10940311) - PS3_supporting. This variant is not present in population databases (rs193302903, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The p.(Arg300His) was detected in trans with a pathogenic variant (PMID: 15906092; 9781688) - PM3_strong. Pathogenic missense variant in this residue have been reported (ClinVar ID: 68293) - PM5. In summary, the currently available evidence indicates that the variant is pathogenic.

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

Last Updated: Apr 15, 2024

ClinVar

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