NM_000642.3(AGL):c.595C>T (p.Gln199Ter) AND Glycogen storage disease type III

Clinical significance:Pathogenic (Last evaluated: Sep 15, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001069267.2

Allele description [Variation Report for NM_000642.3(AGL):c.595C>T (p.Gln199Ter)]

NM_000642.3(AGL):c.595C>T (p.Gln199Ter)

Gene:
AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.2
Genomic location:
Preferred name:
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
HGVS:
  • NC_000001.11:g.99864520C>T
  • NG_012865.1:g.19437C>T
  • NM_000028.2:c.595C>T
  • NM_000642.3:c.595C>TMANE SELECT
  • NM_000643.2:c.595C>T
  • NM_000644.2:c.595C>T
  • NM_000646.2:c.547C>T
  • NP_000019.2:p.Gln199Ter
  • NP_000633.2:p.Gln199Ter
  • NP_000634.2:p.Gln199Ter
  • NP_000635.2:p.Gln199Ter
  • NP_000637.2:p.Gln183Ter
  • NC_000001.10:g.100330076C>T
  • NM_000642.2:c.595C>T
Protein change:
Q183*
Links:
dbSNP: rs780694207
NCBI 1000 Genomes Browser:
rs780694207
Molecular consequence:
  • NM_000028.2:c.595C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000642.3:c.595C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000643.2:c.595C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000644.2:c.595C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000646.2:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Glycogen storage disease type III (GSD3)
Synonyms:
Glycogen storage disease type 3; Forbes disease; Cori disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009291; MedGen: C0017922; Orphanet: 366; OMIM: 232400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001234422Invitaecriteria provided, single submitter
Pathogenic
(Sep 15, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

Lu C, Qiu Z, Sun M, Wang W, Wei M, Zhang X.

J Hum Genet. 2016 Jul;61(7):641-5. doi: 10.1038/jhg.2016.24. Epub 2016 Mar 17.

PubMed [citation]
PMID:
26984562

Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.

Cheng A, Zhang M, Okubo M, Omichi K, Saltiel AR.

Hum Mol Genet. 2009 Jun 1;18(11):2045-52. doi: 10.1093/hmg/ddp128. Epub 2009 Mar 19.

PubMed [citation]
PMID:
19299494
PMCID:
PMC2678930
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001234422.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln199*) in the AGL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780694207, ExAC 0.003%). This variant has been observed in an individual affected with glycogen storage disease (PMID: 26984562). Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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