ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1101G>A (p.Met367Ile)

dbSNP: rs1555219147
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528368 SCV000633948 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN8A-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 367 of the SCN8A protein (p.Met367Ile). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 461331). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN8A protein function. 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.

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