ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)

dbSNP: rs878853250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232816 SCV001405386 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-10-31 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of early infantile epileptic encephalopathy (PMID: 27900360, 30109124). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 236207). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with serine at codon 267 of the SCN8A protein (p.Leu267Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine.
Lyon Laboratory, Cold Spring Harbor Laboratory RCV000225160 SCV000282046 pathogenic Global developmental delay; Developmental regression; Developmental stagnation at onset of seizures; Generalized tonic seizure; Intellectual disability, severe; Epileptic encephalopathy no assertion criteria provided clinical testing

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