ClinVar Miner

Submissions for variant NM_153033.5(KCTD7):c.302G>A (p.Gly101Asp)

dbSNP: rs1554397831
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000663338 SCV000784590 uncertain significance Progressive myoclonic epilepsy type 3 2018-06-26 no assertion criteria provided clinical testing The observed variant c.302G>A (p.Gly101Asp) is not observed in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is disease causing by MutationTaster2, probably damaging by SIFT and PolyPhen2.

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.