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NM_000162.5(GCK):c.630G>T (p.Met210Ile) AND Maturity onset diabetes mellitus in young

Germline classification:
Uncertain significance/Uncertain risk allele (2 submissions)
Last evaluated:
Feb 16, 2016
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:
RCV002362597.3

Allele description [Variation Report for NM_000162.5(GCK):c.630G>T (p.Met210Ile)]

NM_000162.5(GCK):c.630G>T (p.Met210Ile)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.630G>T (p.Met210Ile)
Other names:
NM_000162.5(GCK):c.630G>T
HGVS:
  • NC_000007.14:g.44149809C>A
  • NG_008847.2:g.53362G>T
  • NM_000162.5:c.630G>TMANE SELECT
  • NM_001354800.1:c.630G>T
  • NM_033507.3:c.633G>T
  • NM_033508.3:c.627G>T
  • NP_000153.1:p.Met210Ile
  • NP_001341729.1:p.Met210Ile
  • NP_277042.1:p.Met211Ile
  • NP_277043.1:p.Met209Ile
  • LRG_1074t1:c.630G>T
  • LRG_1074t2:c.633G>T
  • LRG_1074:g.53362G>T
  • LRG_1074p1:p.Met210Ile
  • LRG_1074p2:p.Met211Ile
  • NC_000007.13:g.44189408C>A
  • NM_000162.3:c.630G>T
Protein change:
M209I
Links:
dbSNP: rs193922313
NCBI 1000 Genomes Browser:
rs193922313
Molecular consequence:
  • NM_000162.5:c.630G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.630G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.633G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.627G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Maturity onset diabetes mellitus in young (MODY)
Synonyms:
Mason type diabetes
Identifiers:
MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002605192Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)
Uncertain risk alleleunknownresearch

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV002660597Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Feb 16, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Clinical implications of the glucokinase impaired function - GCK MODY today.

Hulín J, Škopková M, Valkovičová T, Mikulajová S, Rosoľanková M, Papcun P, Gašperíková D, Staník J.

Physiol Res. 2020 Dec 22;69(6):995-1011. Epub 2020 Nov 2. Review.

PubMed [citation]
PMID:
33129248
PMCID:
PMC8549873

GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature.

Ping Xiao Y, Hua Xu X, Lan Fang Y, Jiang L, Chen C, Liang L, Lin Wang C.

J Pediatr Endocrinol Metab. 2016 Aug 1;29(8):959-64. doi: 10.1515/jpem-2015-0354. Review.

PubMed [citation]
PMID:
27269892
See all PubMed Citations (6)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605192.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (6)

Description

Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs193922313 in MODY, yet.

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

From Ambry Genetics, SCV002660597.2

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

Description

The p.M210I variant (also known as c.630G>T), located in coding exon 6 of the GCK gene, results from a G to T substitution at nucleotide position 630. The methionine at codon 210 is replaced by isoleucine, an amino acid with highly similar properties. Other alterations at the same amino acid position (p.M210K and p.M210T) have been reported in affected individuals including at least one homozygous individual who was reported to have permanent neonatal diabetes (Njolstad et al. N Engl J Med. 2001;344: 1588-92, Velho et al. Diabetologia. 1997;40: 217-24). The p.M210I variant was previously reported in the SNPDatabase as rs193922313. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024