ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) (rs140367649)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000598125 SCV000709446 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768253 SCV000898779 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-10-10 criteria provided, single submitter clinical testing KCNT1 NM_020822.2 exon 12 p.Thr370= (c.1110G>A): This variant has not been reported in the literature but is present in 4/17240 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs140367649). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000598125 SCV001011645 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000768253 SCV001681005 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-11-26 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.