ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) (rs556581174)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Translational Genomics Laboratory,University of Maryland School of Medicine RCV000754805 SCV000882454 pathogenic Maturity-onset diabetes of the young, type 2 2017-04-25 criteria provided, single submitter clinical testing The c.1113C>A variant in codon 371 (exon 9) of the glucokinase gene, GCK, results in the generation of a stop codon. The c.1113C>A variant was not observed in the NHLBI Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium databases; however, loss of function nonsense mutations in the GCK gene, including ones in exon 9, have been reported previously in patients with Maturity-Onset Diabetes of the Young, Type 2 (MODY2) (19790256). Additionally, multiple lines of computational evidence (MutationTaster, LRT, CADD) predict this variant is probably damaging to the protein structure, function, or protein-protein interaction. ACMG criteria = PVS1, PM2, PP3

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