NM_000158.4(GBE1):c.708G>C (p.Gln236His) AND Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 15, 2006
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000002924.5

Allele description [Variation Report for NM_000158.4(GBE1):c.708G>C (p.Gln236His)]

NM_000158.4(GBE1):c.708G>C (p.Gln236His)

Gene:

GBE1:1,4-alpha-glucan branching enzyme 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p12.2

Genomic location:

Preferred name:

NM_000158.4(GBE1):c.708G>C (p.Gln236His)

Other names:

NM_000158.4(GBE1):c.708G>C; p.Gln236His

HGVS:

NC_000003.12:g.81646466C>G
NG_011810.1:g.120335G>C
NM_000158.4:c.708G>CMANE SELECT
NP_000149.4:p.Gln236His
NC_000003.11:g.81695617C>G
NC_000003.11:g.81695617C>G
NM_000158.3:c.708G>C

Protein change:

Q236H; GLN236HIS

Links:

OMIM: 607839.0015; dbSNP: rs137852892

NCBI 1000 Genomes Browser:

rs137852892

Molecular consequence:

NM_000158.4:c.708G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Synonyms:: Glycogen storage disease IV, congenital neuromuscular; GSD IV, NEUROMUSCULAR FORM, CONGENITAL
Identifiers:: MONDO: MONDO:0017698; MedGen: C1856304

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023082	OMIM	no assertion criteria provided	Pathogenic (Apr 15, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023082

OMIM

no assertion criteria provided

Pathogenic
(Apr 15, 2006)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT.

Am J Med Genet A. 2006 Apr 15;140(8):878-82.

PubMed [citation]

PMID:: 16528737

Details of each submission

From OMIM, SCV000023082.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 30-month-old girl with stable congenital neuromuscular glycogen storage disease IV (GSD4; 232500), Burrow et al. (2006) identified compound heterozygosity for a 708G-C transversion and a 784C-T transition in the GBE1 gene, resulting in a gln236-to-his (Q236H) and an arg262-to-cys (R262C; 607839.0016) substitution, respectively. Each parent was a carrier of 1 of the mutations. The authors stated that the patient was unique among patients with GSD IV, in that she had a stable myopathy and exhibited no cardiac or hepatic pathology at age 2.5 years.

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

Last Updated: Jun 2, 2024

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