NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001089502.1

Allele description [Variation Report for NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter)]

NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter)

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.1051C>T (p.Gln351Ter)

HGVS:

NC_000017.11:g.42911403C>T
NG_011808.1:g.15606C>T
NM_000151.4:c.1051C>TMANE SELECT
NM_001270397.2:c.*443C>T
NP_000142.2:p.Gln351Ter
LRG_147:g.15606C>T
NC_000017.10:g.41063420C>T
NM_000151.3:c.1051C>T

Protein change:

Q351*

Links:

dbSNP: rs766448695

NCBI 1000 Genomes Browser:

rs766448695

Molecular consequence:

NM_001270397.2:c.*443C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000151.4:c.1051C>T - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001244748	Kids Research, The Children's Hospital at Westmead	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	inherited	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 32313153

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001244748

Kids Research, The Children's Hospital at Westmead

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

inherited

research

PubMed (2)
[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	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.

Riley LG, Cowley MJ, Gayevskiy V, Minoche AE, Puttick C, Thorburn DR, Rius R, Compton AG, Menezes MJ, Bhattacharya K, Coman D, Ellaway C, Alexander IE, Adams L, Kava M, Robinson J, Sue CM, Balasubramaniam S, Christodoulou J.

Genet Med. 2020 Jul;22(7):1254-1261. doi: 10.1038/s41436-020-0793-6. Epub 2020 Apr 21.

PubMed [citation]

PMID:: 32313153

Details of each submission

From Kids Research, The Children's Hospital at Westmead, SCV001244748.1

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

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

Last Updated: Apr 23, 2022

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