ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.291del (p.Gln98fs)

dbSNP: rs1562719029
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
MVZ Dr. Eberhard & Partner Dortmund RCV000721110 SCV000851989 pathogenic not provided 2018-06-22 criteria provided, single submitter clinical testing Frameshift mutation in exon 3 that generates a premature stop at codon 101.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465757 SCV002605371 likely pathogenic Maturity onset diabetes mellitus in young criteria provided, single submitter research Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs1562719029 in MODY, yet.

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.