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NM_000162.5(GCK):c.1288C>G (p.Leu430Val) AND Maturity onset diabetes mellitus in young

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 3, 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:
RCV002383233.2

Allele description [Variation Report for NM_000162.5(GCK):c.1288C>G (p.Leu430Val)]

NM_000162.5(GCK):c.1288C>G (p.Leu430Val)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1288C>G (p.Leu430Val)
HGVS:
  • NC_000007.14:g.44145246G>C
  • NG_008847.2:g.57925C>G
  • NM_000162.5:c.1288C>GMANE SELECT
  • NM_001354800.1:c.1288C>G
  • NM_001354801.1:c.277C>G
  • NM_001354802.1:c.148C>G
  • NM_001354803.2:c.322C>G
  • NM_033507.3:c.1291C>G
  • NM_033508.3:c.1285C>G
  • NP_000153.1:p.Leu430Val
  • NP_001341729.1:p.Leu430Val
  • NP_001341730.1:p.Leu93Val
  • NP_001341731.1:p.Leu50Val
  • NP_001341732.1:p.Leu108Val
  • NP_277042.1:p.Leu431Val
  • NP_277043.1:p.Leu429Val
  • LRG_1074t1:c.1288C>G
  • LRG_1074t2:c.1291C>G
  • LRG_1074:g.57925C>G
  • LRG_1074p1:p.Leu430Val
  • LRG_1074p2:p.Leu431Val
  • NC_000007.13:g.44184845G>C
  • NM_000162.3:c.1288C>G
Protein change:
L108V
Molecular consequence:
  • NM_000162.5:c.1288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.1288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354801.1:c.277C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354802.1:c.148C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354803.2:c.322C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.1291C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.1285C>G - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002689475Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 3, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002689475.2

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

Description

The p.L430V variant (also known as c.1288C>G), located in coding exon 10 of the GCK gene, results from a C to G substitution at nucleotide position 1288. The leucine at codon 430 is replaced by valine, an amino acid with highly similar properties. 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