ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg)

dbSNP: rs878854974
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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 RCV000232244 SCV000289937 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-08-13 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 SCN8A-related disease (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 leucine with arginine at codon 840 of the SCN8A protein (p.Leu840Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine.

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