ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.122T>C (p.Met41Thr) (rs1057524906)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Translational Genomics Laboratory,University of Maryland School of Medicine 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 Inc RCV000992041 SCV001144005 uncertain significance not provided 2019-08-05 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.