Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690219 | SCV000817898 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2020-10-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects SCN8A protein function (PMID: 31402610). This variant has been observed in individual(s) with clinical features of SCN8A-related conditions (PMID: 31402610, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 569559). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 139 of the SCN8A protein (p.Met139Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. |