ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr)

dbSNP: rs1698007004
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224562 SCV001396767 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-05-21 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed to be de novo in an individual affected with Dravet syndrome (PMID: 27465585). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tyrosine at codon 374 of the SCN1A protein (p.Ser374Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine.

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