ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp)

dbSNP: rs886043686
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000265782 SCV000341501 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
Invitae RCV001379975 SCV001577891 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-09-14 criteria provided, single submitter clinical testing This sequence change replaces leucine with tryptophan at codon 848 of the SCN8A protein (p.Leu848Trp). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of epileptic encephalopathy (PMID: 31026061, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 287663). 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"). 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.

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