ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.364-1G>A (rs1057521094)

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
GeneDx RCV000429688 SCV000521047 likely pathogenic not provided 2016-10-05 criteria provided, single submitter clinical testing The c.364-1 G>A splice site variant in the GCK gene has been previously reported in a patient with incidental hyperglycemia (Lorini et al., 2009). This variant destroys the canonical splice acceptor site in intron 3, and is expected to cause abnormal gene splicing. However, the adjacent exon 4 is predicted to remain in frame. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Additionally, the variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be likely pathogenic.
Athena Diagnostics Inc RCV000429688 SCV000613424 pathogenic not provided 2016-07-11 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.