ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1253+2T>A (rs1057524902)

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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 RCV000445532 SCV000537119 pathogenic Monogenic diabetes 2015-06-12 criteria provided, single submitter clinical testing The c.1253+2T>A variant in the GCK gene removes a splice donor site in IVS9 (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. Splice site mutations in the GCK gene have been reported previously in patients with Maturity-Onset Diabetes of the Young, Type 2 (MODY2, also called GCK-MODY) (19790256; 14517946). The c.1253+2T>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 or function; ACMG Criteria = PVS1, PM2, PP3
Translational Genomics Laboratory,University of Maryland School of Medicine RCV000754802 SCV000882451 pathogenic Maturity-onset diabetes of the young, type 2 2017-06-08 criteria provided, single submitter clinical testing The c.1253+2T>A variant in the GCK gene removes a splice donor site in IVS9 (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.1253+2T>A variant was not observed in the NHLBI Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium databases. Splice site mutations in the GCK gene, including ones in IVS9, have been reported previously in patients with a clinical picture consistent with Maturity-Onset Diabetes of the Young, Type 2 (MODY2, also called GCK-MODY) (19790256; 14517946). Additionally, multiple lines of computational evidence (MutationTaster, CADD, GERP) predict this variant is probably damaging to the protein structure or function; ACMG Criteria = PVS1, PM2, PP3

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