ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)

dbSNP: rs121918740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000059502 SCV000221760 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Invitae RCV001385513 SCV001585392 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-08-04 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 1287 of the SCN1A protein (p.Leu1287Pro). 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 been observed in individual(s) with clinical features of Dravet syndrome (PMID: 20431604, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 68624). 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. For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000059502 SCV000091028 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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