ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro)

dbSNP: rs1559245847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703113 SCV000831995 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2018-05-25 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 individuals affected with clinical features consistent with an SCN1A-related disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 186 of the SCN1A protein (p.Leu186Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796286 SCV005418048 uncertain significance Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B criteria provided, single submitter clinical testing PM2_Supporting+PP3+PS2_Supporting+PP2

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