ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val)

dbSNP: rs1565917697
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 RCV000696324 SCV000824879 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-05-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN8A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 982 of the SCN8A protein (p.Ala982Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Institute of Human Genetics, University of Leipzig Medical Center RCV002255511 SCV002526712 likely pathogenic Seizures, benign familial infantile, 5 2022-05-24 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_MOD, PM1, PM2_SUP, PP3

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.