ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys)

dbSNP: rs794726844
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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 RCV000180974 SCV000221957 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003588585 SCV004292143 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-04-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 190018). This missense change has been observed in individual(s) with Dravet syndrome (PMID: 24168886, 26096185). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 349 of the SCN1A protein (p.Tyr349Cys).

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