ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.680-1G>A (rs1057524905)

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Total submissions: 2
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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 RCV000445383 SCV000537122 pathogenic Monogenic diabetes 2016-04-22 criteria provided, single submitter clinical testing The c.680-1G>A variant in the GCK gene removes a splice acceptor site in IVS6 (19339519). Canonical splice site variants can often be assumed to disrupt gene function by leading to a complete absence of the gene product by lack of transcription or nonsense-mediated decay of an altered transcript. The c.680-1G>A variant has previously been reported (16965331) in a patient with Maturity-Onset Diabetes of the Young, Type 2 (MODY2, also called GCK-MODY), as have other splice site mutations in the GCK gene (19790256, 14517946). The c.680-1G>A variant was not observed in the NHLBI Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium databases. Multiple lines of computational evidence (MutationTaster, CADD, GERP) predict this variant is probably damaging to the protein structure, function, or protein-protein interaction. ACMG Criteria = PVS1, PM2, PP3
Translational Genomics Laboratory,University of Maryland School of Medicine RCV000754801 SCV000882450 pathogenic Maturity-onset diabetes of the young, type 2 2017-02-09 criteria provided, single submitter clinical testing The c.680-1G>A variant in the GCK gene removes a splice acceptor site in IVS6 (19339519). Canonical splice site variants can often be assumed to disrupt gene function by leading to a complete absence of the gene product by lack of transcription or nonsense-mediated decay of an altered transcript. The c.680-1G>A variant has previously been reported (16965331) in a patient with Maturity-Onset Diabetes of the Young, Type 2 (MODY2, also called GCK-MODY), as have other splice site mutations in the GCK gene (19790256, 14517946). The c.680-1G>A variant was not observed in the NHLBI Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium databases. Multiple lines of computational evidence (MutationTaster, CADD, GERP) predict this variant is probably damaging to the protein structure, function, or protein-protein interaction. ACMG Criteria = PVS1, PM2, PP3

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