NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 18, 2019
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:: RCV001060511.11

Allele description [Variation Report for NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)]

NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)

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.228G>C (p.Lys76Asn)

HGVS:

NC_000017.11:g.42901104G>C
NG_011808.1:g.5307G>C
NM_000151.4:c.228G>CMANE SELECT
NM_001270397.2:c.228G>C
NP_000142.2:p.Lys76Asn
NP_001257326.1:p.Lys76Asn
LRG_147:g.5307G>C
NC_000017.10:g.41053121G>C
NM_000151.3:c.228G>C

Protein change:

K76N

Links:

dbSNP: rs2056023296

NCBI 1000 Genomes Browser:

rs2056023296

Molecular consequence:

NM_000151.4:c.228G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001270397.2:c.228G>C - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001225204	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 18, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 10874313, 16435186, 11739393, 28492532
SCV002093295	Natera, Inc.	no assertion criteria provided	Pathogenic (Mar 17, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001225204

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 18, 2019)

germline

clinical testing

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

SCV002093295

Natera, Inc.

no assertion criteria provided

Pathogenic
(Mar 17, 2017)

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 glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.

Kozák L, Francová H, Hrabincová E, Stastná S, Pesková K, Elleder M.

Hum Mutat. 2000 Jul;16(1):89.

PubMed [citation]

PMID:: 10874313

Mutation spectrum of type I glycogen storage disease in Hungary.

Miltenberger-Miltenyi G, Szonyi L, Balogh L, Utermann G, Janecke AR.

J Inherit Metab Dis. 2005;28(6):939-44.

PubMed [citation]

PMID:: 16435186

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001225204.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant has been observed to segregate with glycogen storage disease¬† in families (PMID: 10874313, 16435186). For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect G6PC protein function (PMID: 11739393). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 76 of the G6PC protein (p.Lys76Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine.

#	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., SCV002093295.1

#	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: Sep 29, 2024

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