ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) (rs794726821)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180946 SCV000221928 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Invitae RCV001219498 SCV001391441 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-04-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 1352 of the SCN1A protein (p.Leu1352Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 189990). 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. 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.

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