ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4064A>G (p.Tyr1355Cys)

dbSNP: rs1592162522
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817578 SCV000958147 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-11-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 not been reported in the literature in individuals with SCN8A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 1355 of the SCN8A protein (p.Tyr1355Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.

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