NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Sep 20, 2024
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:: RCV000726277.6

Allele description [Variation Report for NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)]

NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)

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.969C>A (p.Tyr323Ter)

Other names:

p.Tyr323*

HGVS:

NC_000017.11:g.42911321C>A
NG_011808.1:g.15524C>A
NM_000151.4:c.969C>AMANE SELECT
NM_001270397.2:c.*361C>A
NP_000142.2:p.Tyr323Ter
LRG_147:g.15524C>A
NC_000017.10:g.41063338C>A
NM_000151.2:c.969C>A
NM_000151.3:c.969C>A

Protein change:

Y323*

Links:

dbSNP: rs780226142

NCBI 1000 Genomes Browser:

rs780226142

Molecular consequence:

NM_001270397.2:c.*361C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000151.4:c.969C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000343386	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Jun 29, 2016)	germline	clinical testing	Citation Link,
SCV004228180	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 27, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23046672, 31508908, 34258141, 25741868
SCV005327149	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 20, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000343386

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Jun 29, 2016)

germline

clinical testing

Citation Link,

SCV004228180

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 27, 2023)

germline

clinical testing

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

SCV005327149

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 20, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I.

Calderaro J, Labrune P, Morcrette G, Rebouissou S, Franco D, Prévot S, Quaglia A, Bedossa P, Libbrecht L, Terracciano L, Smit GP, Bioulac-Sage P, Zucman-Rossi J.

J Hepatol. 2013 Feb;58(2):350-7. doi: 10.1016/j.jhep.2012.09.030. Epub 2012 Oct 6.

PubMed [citation]

PMID:: 23046672

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, Nalin T, Ribeiro EM, Steiner CE, Ribeiro Valadares E, Porta G, Fishinger Moura de Souza C, Schwartz IVD.

Mol Genet Genomic Med. 2019 Nov;7(11):e877. doi: 10.1002/mgg3.877. Epub 2019 Sep 11.

PubMed [citation]

PMID:: 31508908
PMCID:: PMC6825860

See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000343386.4

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004228180.1

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

Description

PM2, PM3_supporting, PS3, PVS1_strong

#	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 GeneDx, SCV005327149.1

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

Description

Reported in a patient in the published literature with glycogen storage disease type 1 (PMID: 23046672); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation, as the last 35 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Published functional studies demonstrate a damaging effect on protein expression (PMID: 34258141); This variant is associated with the following publications: (PMID: 10070617, 11949931, 31508908, 8182131, 7573034, 8733042, 28397058, 23046672, 34258141)

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

Last Updated: Oct 8, 2024

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