ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys)

gnomAD frequency: 0.00001  dbSNP: rs557559740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342531 SCV001536467 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 466 of the SCN8A protein (p.Glu466Lys). This variant is present in population databases (rs557559740, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with SCN8A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1039121). 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 not expected to disrupt SCN8A protein function with a negative predictive value of 95%. 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.
Fulgent Genetics, Fulgent Genetics RCV002493756 SCV002784400 uncertain significance Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 2022-05-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136004 SCV003821358 likely benign not provided 2023-11-29 criteria provided, single submitter clinical testing

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