ClinVar Miner

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

dbSNP: rs959316981
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Total submissions: 3
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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 Developmental and epileptic encephalopathy, 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 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.

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