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NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile) AND G6PC1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 24, 2022
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:
RCV003401731.4

Allele description [Variation Report for NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)]

NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)

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.764C>T (p.Thr255Ile)
HGVS:
  • NC_000017.11:g.42911116C>T
  • NG_011808.1:g.15319C>T
  • NM_000151.4:c.764C>TMANE SELECT
  • NM_001270397.2:c.*156C>T
  • NP_000142.2:p.Thr255Ile
  • LRG_147:g.15319C>T
  • NC_000017.10:g.41063133C>T
  • NM_000151.3:c.764C>T
Protein change:
T255I
Links:
dbSNP: rs2056092654
NCBI 1000 Genomes Browser:
rs2056092654
Molecular consequence:
  • NM_001270397.2:c.*156C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000151.4:c.764C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
G6PC1-related disorder
Synonyms:
G6PC1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004105247PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 24, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004105247.1

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

Description

The G6PC1 c.764C>T variant is predicted to result in the amino acid substitution p.Thr255Ile. This variant has been reported in the homozygous state or with a second G6PC variant in individuals with glycogen storage disease type 1a (GSD Ia) (Shieh et al. 2002. PubMed ID: 11739393; Dahlberg KR et al 2019. PubMed ID: 31415093). It has also been reported as a variant observed in studies of GSD Ia patients without full G6PC1 genotype information provided (Chou et al. 2002. PubMed ID: 11949931; Ki et al. 2004. PubMed ID: 15151508). In a functional study using COS-1 cells, the p.Thr255Ile substitution was reported to reduce enzyme activity to <3% of wild type (Shieh et al. 2002. PubMed ID: 11739393). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. Based on the available evidence, this variant is interpreted as likely pathogenic.

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

Last Updated: Sep 29, 2024