ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4447-7_4447-3del

dbSNP: rs1701578547
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068987 SCV001234125 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-10-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN2A-related conditions. This variant has been observed in at least one individual who was not affected with SCN2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 862293). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 24 of the SCN2A gene. It does not directly change the encoded amino acid sequence of the SCN2A protein. It affects a nucleotide within the consensus splice site.

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.