NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Clinical significance:Likely pathogenic (Last evaluated: Aug 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001379867.1

Allele description [Variation Report for NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)]

NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)

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.792C>G (p.Asn264Lys)
HGVS:
  • NC_000017.11:g.42911144C>G
  • NG_011808.1:g.15347C>G
  • NM_000151.4:c.792C>GMANE SELECT
  • NM_001270397.2:c.*184C>G
  • NP_000142.2:p.Asn264Lys
  • LRG_147:g.15347C>G
  • NC_000017.10:g.41063161C>G
Protein change:
N264K
Molecular consequence:
  • NM_001270397.2:c.*184C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000151.4:c.792C>G - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001577750Invitaecriteria provided, single submitter
Likely pathogenic
(Aug 14, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.

Keller KM, Sch├╝tz M, Podskarbi T, Bindl L, Lentze MJ, Shin YS.

J Pediatr. 1998 Feb;132(2):360-1.

PubMed [citation]
PMID:
9506659

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

Shieh JJ, Terzioglu M, Hiraiwa H, Marsh J, Pan CJ, Chen LY, Chou JY.

J Biol Chem. 2002 Feb 15;277(7):5047-53. Epub 2001 Dec 5.

PubMed [citation]
PMID:
11739393
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001577750.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces asparagine with lysine at codon 264 of the G6PC protein (p.Asn264Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with glycogen storage disease (PMID: 9506659). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported to affect G6PC protein function (PMID: 11739393). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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