NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jun 26, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000169341.3

Allele description [Variation Report for NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)]

NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)

Gene:
G6PC1:glucose-6-phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)
HGVS:
  • NC_000017.11:g.42901065G>A
  • NG_011808.1:g.5268G>A
  • NM_000151.4:c.189G>AMANE SELECT
  • NM_001270397.2:c.189G>A
  • NP_000142.2:p.Trp63Ter
  • NP_001257326.1:p.Trp63Ter
  • LRG_147:g.5268G>A
  • NC_000017.10:g.41053082G>A
  • NM_000151.3:c.189G>A
Protein change:
W63*
Links:
dbSNP: rs764920787
NCBI 1000 Genomes Browser:
rs764920787
Molecular consequence:
  • NM_000151.4:c.189G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001270397.2:c.189G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA (GSD1A)
Synonyms:
GSD Ia; Glycogen storage disease type 1A; Von Gierke disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009287; MedGen: C2919796; Orphanet: 364; Orphanet: 79258; OMIM: 232200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220703Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 17, 2014)
unknownliterature only

PubMed (6)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV001220526Invitaecriteria provided, single submitter
Pathogenic
(Jun 26, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.

Rake JP, ten Berge AM, Verlind E, Visser G, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H.

Hum Mutat. 1999;13(2):173.

PubMed [citation]
PMID:
10094563

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H.

Eur J Pediatr. 2000 May;159(5):322-30. Review.

PubMed [citation]
PMID:
10834516
See all PubMed Citations (8)

Details of each submission

From Counsyl, SCV000220703.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001220526.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Trp63*) in the G6PC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764920787, ExAC 0.001%). This variant has been observed in several individuals affected with glycogen storage disease (PMID: 7573034, 11949931). ClinVar contains an entry for this variant (Variation ID: 188966). Loss-of-function variants in G6PC are known to be pathogenic (PMID: 8182131). 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: Oct 7, 2021

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