ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466365 SCV002761320 likely pathogenic Developmental and epileptic encephalopathy, 13 2022-02-03 criteria provided, single submitter clinical testing
Invitae RCV003775490 SCV004622389 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-03-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1803068). This missense change has been observed in individual(s) with clinical features of SCN8A-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1492 of the SCN8A protein (p.Met1492Thr). 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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