ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn)

dbSNP: rs1938178701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202692 SCV001373815 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-10-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with early-onset epilepsy (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 1465 of the SCN8A protein (p.Asp1465Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252328 SCV002522746 likely pathogenic See cases 2021-06-17 criteria provided, single submitter clinical testing ACMG classification criteria: PS4, PM1, PM2, PP3

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