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NM_000162.5(GCK):c.941T>C (p.Leu314Pro) AND Maturity onset diabetes mellitus in young

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 22, 2019
Review status:
criteria provided, conflicting classifications
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:
RCV002376921.4

Allele description [Variation Report for NM_000162.5(GCK):c.941T>C (p.Leu314Pro)]

NM_000162.5(GCK):c.941T>C (p.Leu314Pro)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.941T>C (p.Leu314Pro)
HGVS:
  • NC_000007.14:g.44146541A>G
  • NG_008847.2:g.56630T>C
  • NM_000162.5:c.941T>CMANE SELECT
  • NM_001354800.1:c.941T>C
  • NM_001354801.1:c.8+78T>C
  • NM_033507.3:c.944T>C
  • NM_033508.3:c.938T>C
  • NP_000153.1:p.Leu314Pro
  • NP_001341729.1:p.Leu314Pro
  • NP_277042.1:p.Leu315Pro
  • NP_277043.1:p.Leu313Pro
  • LRG_1074t1:c.941T>C
  • LRG_1074t2:c.944T>C
  • LRG_1074:g.56630T>C
  • LRG_1074p1:p.Leu314Pro
  • LRG_1074p2:p.Leu315Pro
  • NC_000007.13:g.44186140A>G
  • NM_000162.3:c.941T>C
Protein change:
L313P
Links:
dbSNP: rs1554334886
NCBI 1000 Genomes Browser:
rs1554334886
Molecular consequence:
  • NM_001354801.1:c.8+78T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000162.5:c.941T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.941T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.944T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.938T>C - 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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002605122Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

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

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

Citation Link,

SCV002685023Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 22, 2019) 		germlineclinical testing

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

Citation Link

Help

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 (7)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605122.1

#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 rs1554334886 in MODY, yet.

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

From Ambry Genetics, SCV002685023.2

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

Description

The p.L314P variant (also known as c.941T>C), located in coding exon 8 of the GCK gene, results from a T to C substitution at nucleotide position 941. The leucine at codon 314 is replaced by proline, an amino acid with similar properties. This variant was identified in one individual with a clinical diagnosis of maturity-onset diabetes of the young (Garin I et al. Clin. Endocrinol. (Oxf), 2008 Jun;68:873-8). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on available evidence to date, 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