NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: May 31, 2019)

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:
RCV000674590.3

Allele description [Variation Report for NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)]

NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)

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.516C>A (p.Tyr172Ter)
HGVS:
  • NC_000017.11:g.42909372C>A
  • NG_011808.1:g.13575C>A
  • NM_000151.4:c.516C>AMANE SELECT
  • NM_001270397.2:c.439C>A
  • NP_000142.2:p.Tyr172Ter
  • NP_001257326.1:p.Pro147Thr
  • LRG_147:g.13575C>A
  • NC_000017.10:g.41061389C>A
  • NM_000151.3:c.516C>A
Protein change:
P147T
Links:
dbSNP: rs1555559991
NCBI 1000 Genomes Browser:
rs1555559991
Molecular consequence:
  • NM_001270397.2:c.439C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000151.4:c.516C>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000799952Counsylcriteria provided, single submitter
Likely pathogenic
(May 14, 2018)
unknownclinical testing

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

Citation Link,

SCV001378072Invitaecriteria provided, single submitter
Pathogenic
(May 31, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.

Stroppiano M, Regis S, DiRocco M, Caroli F, Gandullia P, Gatti R.

J Inherit Metab Dis. 1999 Feb;22(1):43-9.

PubMed [citation]
PMID:
10070617

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Lei KJ, Pan CJ, Shelly LL, Liu JL, Chou JY.

J Clin Invest. 1994 May;93(5):1994-9.

PubMed [citation]
PMID:
8182131
PMCID:
PMC294308
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000799952.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001378072.2

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

Description

This sequence change creates a premature translational stop signal (p.Tyr172*) in the G6PC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with glycogen storage disease (PMID: 10070617). ClinVar contains an entry for this variant (Variation ID: 558339). 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

Support Center