NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr) AND Glycogen storage disease, type VI

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000020498.4

Allele description [Variation Report for NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr)]

NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr)

Gene:

PYGL:glycogen phosphorylase L [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.1

Genomic location:

Preferred name:

NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr)

HGVS:

NC_000014.9:g.50910049A>T
NG_012796.1:g.39482T>A
NM_001163940.2:c.1921T>A
NM_002863.5:c.2023T>AMANE SELECT
NP_001157412.1:p.Ser641Thr
NP_002854.3:p.Ser675Thr
NC_000014.8:g.51376767A>T
NM_002863.3:c.2023T>A

Protein change:

S641T

Links:

dbSNP: rs113993985

NCBI 1000 Genomes Browser:

rs113993985

Molecular consequence:

NM_001163940.2:c.1921T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002863.5:c.2023T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glycogen storage disease, type VI (GSD6)
Synonyms:: GSD VI; Glycogen storage disease type 6; Hers disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009294; MedGen: C0017925; Orphanet: 369; OMIM: 232700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040948	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 17705025, 20301760

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040948

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (2)
[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	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

High frequency of missense mutations in glycogen storage disease type VI.

Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ.

J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21.

PubMed [citation]

PMID:: 17705025

Glycogen Storage Disease Type VI.

Labrador E, Weinstein DA.

2009 Apr 23 [updated 2019 Nov 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301760

Details of each submission

From GeneReviews, SCV000040948.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

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

Last Updated: Oct 8, 2022

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