ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met)

dbSNP: rs1942911383
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211933 SCV001383501 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-08-29 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1195 of the SCN8A protein (p.Val1195Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SCN8A-related conditions (PMID: 34431999). ClinVar contains an entry for this variant (Variation ID: 942029). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SCN8A protein function with a positive predictive value of 80%. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV002468624 SCV002765120 uncertain significance Seizures, benign familial infantile, 5 2022-12-07 criteria provided, single submitter clinical testing _x000D_This variant was identified as compound heterozygous with NM_014191.4:c.2702A>G. Criteria applied: PM2_SUP, PP3, PP2
Institute of Human Genetics, University of Leipzig Medical Center RCV003128380 SCV003804684 uncertain significance Developmental and epileptic encephalopathy, 13 2023-01-04 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_014191.4:c.2702A>G, p.(Tyr901Cys). Criteria applied: PM2_SUP, PP3, PP2

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.