ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val)

dbSNP: rs794727128
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174766 SCV000226132 likely pathogenic not provided 2018-03-02 criteria provided, single submitter clinical testing
GeneDx RCV000174766 SCV000242897 pathogenic not provided 2021-09-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29056246, 31487502, 32090326, 27875746)
Invitae RCV001044209 SCV001207993 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-10-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 763 of the SCN8A protein (p.Ile763Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SCN8A-related conditions (PMID: 27875746, 31487502; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 194402). 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. For these reasons, this variant has been classified as Pathogenic.
GenomeConnect, ClinGen RCV000509479 SCV000606944 not provided SCN8A-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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