NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 22, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000725438.5

Allele description [Variation Report for NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)]

NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)

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.883C>T (p.Arg295Cys)

Other names:

G6PC, ARG295CYS

HGVS:

NC_000017.11:g.42911235C>T
NG_011808.1:g.15438C>T
NM_000151.4:c.883C>TMANE SELECT
NM_001270397.2:c.*275C>T
NP_000142.2:p.Arg295Cys
LRG_147t1:c.883C>T
LRG_147:g.15438C>T
NC_000017.10:g.41063252C>T
NM_000151.2:c.883C>T
NM_000151.3:c.883C>T
P35575:p.Arg295Cys

Protein change:

R295C; ARG295CYS

Links:

UniProtKB: P35575#VAR_005251; OMIM: 613742.0003; dbSNP: rs104894563

NCBI 1000 Genomes Browser:

rs104894563

Molecular consequence:

NM_001270397.2:c.*275C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000151.4:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000336926	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Nov 13, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11739393, 8211187 Citation Link,
SCV004228179	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 22, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 10070617, 10874313, 11739393, 18083610, 8211187, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000336926

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Nov 13, 2015)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV004228179

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 22, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical 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 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

See all PubMed Citations (6)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000336926.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	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		1	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004228179.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (6)

Description

PP4, PM2, PM3, PS3, PS4_moderate

#	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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