ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) (rs959316981)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000656399 SCV000778406 likely pathogenic Epileptic encephalopathy, early infantile, 26 2016-12-08 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades RCV000782162 SCV000920626 likely pathogenic Epileptic encephalopathy 2019-03-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000656399 SCV001429494 uncertain significance Epileptic encephalopathy, early infantile, 26 2018-02-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255320 SCV001431658 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.1183G>A, p.(Gly395Arg) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was unknown.The variant likely explains the NDD in this individual.

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.