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NM_000162.5(GCK):c.1288C>T (p.Leu430=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 31, 2018)
Last evaluated:
May 4, 2018
Accession:
VCV000036193.1
Variation ID:
36193
Description:
single nucleotide variant
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NM_000162.5(GCK):c.1288C>T (p.Leu430=)

Allele ID
44857
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p13
Genomic location
7: 44145246 (GRCh38) GRCh38 UCSC
7: 44184845 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.44145246G>A
NC_000007.13:g.44184845G>A
NM_000162.5:c.1288C>T MANE Select NP_000153.1:p.Leu430= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:44145245:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00013
The Genome Aggregation Database (gnomAD) 0.00025
Exome Aggregation Consortium (ExAC) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Links
dbSNP: rs193922276
ClinGen: CA213747
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 18, 2011 RCV000029856.1
Uncertain significance 1 criteria provided, single submitter Mar 28, 2016 RCV000501325.2
Likely benign 1 criteria provided, single submitter May 4, 2018 RCV000710138.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GCK - - GRCh38
GRCh37
520 543

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 28, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000594947.1
Submitted: (Jul 05, 2017)
Evidence details
likely benign
(Aug 18, 2011)
criteria provided, single submitter
Method: curation, clinical testing
MODY2
(autosomal unknown)
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052511.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Likely benign.
Likely benign
(May 04, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613411.2
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (2)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Characteristics of maturity onset diabetes of the young in a large diabetes center. Chambers C Pediatric diabetes 2016 PMID: 26059258
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Osbak KK Human mutation 2009 PMID: 19790256

Text-mined citations for rs193922276...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021