ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)

dbSNP: rs746413385
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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 RCV001365999 SCV001562285 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-03-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 390 of the SCN1A protein (p.Leu390Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Dravet syndrome (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1057080). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Institute of Immunology and Genetics Kaiserslautern RCV004546642 SCV005043031 pathogenic Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 2024-04-11 criteria provided, single submitter clinical testing ACMG Criteria: PM2_P, PP3, PM1, PP5; Variant was found in heterozygous state

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