ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.580-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1554335421
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519932 SCV000617557 pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing The c.580-1 G>A splice site variant in the GCK gene has been previously reported in association with MODY (Toaima et al., 2005; Gozlan et al., 2012). This variant destroys the canonical splice acceptor site in intron 5, and is expected to cause abnormal gene splicing (Toaima et al., 2005). The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be pathogenic.
Geisinger Clinic, Geisinger Health System RCV002285354 SCV002562185 pathogenic Maturity-onset diabetes of the young type 2 2022-08-02 criteria provided, single submitter research PVS1, PM2, PP3, PS4_supporting, PP4
3billion RCV002285354 SCV005906028 pathogenic Maturity-onset diabetes of the young type 2 2023-09-15 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000449414 /PMID: 15841481). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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.