U.S. flag

An official website of the United States government

NM_000162.5(GCK):c.571C>T (p.Arg191Trp) AND GCK-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 28, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004751564.1

Allele description [Variation Report for NM_000162.5(GCK):c.571C>T (p.Arg191Trp)]

NM_000162.5(GCK):c.571C>T (p.Arg191Trp)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
Other names:
NM_000162.5(GCK):c.571C>T; p.Arg191Trp
HGVS:
  • NC_000007.14:g.44149977G>A
  • NG_008847.2:g.53194C>T
  • NM_000162.5:c.571C>TMANE SELECT
  • NM_001354800.1:c.571C>T
  • NM_033507.3:c.574C>T
  • NM_033508.3:c.568C>T
  • NP_000153.1:p.Arg191Trp
  • NP_001341729.1:p.Arg191Trp
  • NP_277042.1:p.Arg192Trp
  • NP_277043.1:p.Arg190Trp
  • LRG_1074t1:c.571C>T
  • LRG_1074t2:c.574C>T
  • LRG_1074:g.53194C>T
  • LRG_1074p1:p.Arg191Trp
  • LRG_1074p2:p.Arg192Trp
  • NC_000007.13:g.44189576G>A
  • NM_000162.3:c.571C>T
  • p.ARG191TRP
Protein change:
R190W
Links:
dbSNP: rs1085307455
NCBI 1000 Genomes Browser:
rs1085307455
Molecular consequence:
  • NM_000162.5:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.568C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005362424PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Mar 28, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005362424.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The GCK c.571C>T variant is predicted to result in the amino acid substitution p.Arg191Trp. This variant has been reported in the heterozygous state to be pathogenic for maturity onset diabetes of the young (MODY) (Caetano. 2012. PubMed ID: 23295292; Yorifuji. 2012. PubMed ID: 22060211). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. This variant is interpreted as pathogenic.

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

Last Updated: Mar 16, 2025