ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1149C>T (p.Ala383=)

gnomAD frequency: 0.00006  dbSNP: rs201402959
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
CeGaT Center for Human Genetics Tuebingen RCV000513321 SCV000608645 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing SCN8A: BP4, BP7
Invitae RCV001426434 SCV001629086 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000513321 SCV001783072 likely benign not provided 2020-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002455984 SCV002615812 likely benign Inborn genetic diseases 2018-07-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.