ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.718A>G (p.Asn240Asp) (rs1562715574)

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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 RCV000754808 SCV000882457 likely pathogenic Maturity-onset diabetes of the young, type 2 2017-06-08 criteria provided, single submitter clinical testing The c.718A>G variant in codon 240 (exon 7) of the glucokinase gene, GCK, results in the substitution of Asparagine to Aspartic Acid. The c.718A>G was not observed in the NHLBI Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium databases; however, this variant has been reported to segregate with diabetes in a family (father and two sons) with a clinical picture consistent with Maturity-Onset Diabetes of the Young, Type 2 (MODY2, also called GCK-MODY) (24735133). This residue is important for H-bonding within the protein and alteration is predicted to disrupt the tertiary structure of the protein (24735133;18382660). Additionally, multiple lines of computational evidence (LRT, MutationTaster, FATHMM, MetaSVM, MetaLR, CADD, GERP, PROVEAN) predict this variant is probably damaging to the protein structure, function, or protein-protein interaction. In addition, the personal and family history for this case is highly suggestive of GCK-MODY.ACMG criteria = PM1, PM2, PP1, PP3

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