ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro)

dbSNP: rs1689684958
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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 RCV001202705 SCV001373828 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-11-29 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN1A protein function. ClinVar contains an entry for this variant (Variation ID: 934340). This missense change has been observed in individual(s) with Dravet syndrome (PMID: 21248271). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1592 of the SCN1A protein (p.Leu1592Pro).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992462 SCV004809601 uncertain significance Severe myoclonic epilepsy in infancy 2024-04-04 criteria provided, single submitter clinical testing

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