NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 20, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000654361.4

Allele description [Variation Report for NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter)]

NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter)

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.255C>A (p.Tyr85Ter)

HGVS:

NC_000017.11:g.42903955C>A
NG_011808.1:g.8158C>A
NM_000151.4:c.255C>AMANE SELECT
NM_001270397.2:c.255C>A
NP_000142.2:p.Tyr85Ter
NP_001257326.1:p.Tyr85Ter
LRG_147:g.8158C>A
NC_000017.10:g.41055972C>A
NM_000151.3:c.255C>A

Protein change:

Y85*

Links:

dbSNP: rs748363083

NCBI 1000 Genomes Browser:

rs748363083

Molecular consequence:

NM_000151.4:c.255C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001270397.2:c.255C>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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000776253	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 20, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 8182131, 28360385, 28492532
SCV001463399	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000776253

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 20, 2023)

germline

clinical testing

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

SCV001463399

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.

Mahmoud SK, Khorrami A, Rafeey M, Ghergherehchi R, Sima MD.

J Genet. 2017 Mar;96(1):19-23.

PubMed [citation]

PMID:: 28360385

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000776253.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Tyr85*) in the G6PC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in G6PC are known to be pathogenic (PMID: 8182131). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 543553). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 28360385). This variant is not present in population databases (gnomAD no frequency).

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

From Natera, Inc., SCV001463399.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine