Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Translational Genomics Laboratory, |
RCV000445500 | SCV000537124 | likely pathogenic | Monogenic diabetes | 2016-10-07 | criteria provided, single submitter | clinical testing | The c.122T>C variant in codon 41 (exon 2) of the glucokinase gene, GCK, results in the substitution of Methionine to Threonine. The c.122T>C variant was not observed in the NHLBI Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium databases; however, this variant has been reported in patients with a clinical picture consistent with Maturity-Onset Diabetes of the Young, Type 2 (MODY2, also called GCK-MODY) (19790256; K. Colclough, personal communication, October 31, 2016; C. Bellanne-Chantelot, personal communication, November 23, 2016), with evidence of co-segregation in one family (C. Bellanne-Chantelot, personal communication, November 23, 2016). Additionally, multiple lines of computational evidence (SIFT, Polyphen, MutationTaster, LRT, FATHMM, SVM, LR, CADD, GERP) predict this variant is probably damaging to the protein structure, function, or protein-protein interaction. ACMG Criteria = PS4 (as moderate evidence), PP1, PM2, PP5, PP3 |
Athena Diagnostics | RCV000992041 | SCV001144005 | uncertain significance | not provided | 2019-08-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000992041 | SCV004039576 | likely pathogenic | not provided | 2024-12-12 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; This variant is associated with the following publications: (PMID: 19790256, 31957151, 34746319, 33852230, 29510678, 34789499, 32375122) |