ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter)

dbSNP: rs1391326211
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002049562 SCV002110017 uncertain significance Developmental and epileptic encephalopathy, 26 2021-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg303*) in the KCNB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 556 amino acid(s) of the KCNB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of KCNB1-related conditions (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV003223730 SCV003919644 likely pathogenic not provided 2022-10-24 criteria provided, single submitter clinical testing Identified in an individual with motor and speech developmental delay without seizures in the published literature (van der Ven et al., 2021); Nonsense variant predicted to result in protein truncation as the last 556 amino acids are lost; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34490615, 31957018)

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.