ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4583T>A (p.Ile1528Asn)

dbSNP: rs2138919119
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002041381 SCV002114225 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-05-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 1346284). This missense change has been observed in individual(s) with SCN8A-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 1528 of the SCN8A protein (p.Ile1528Asn).

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