ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val)

dbSNP: rs794726826
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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 RCV000180952 SCV000221934 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001850422 SCV002168635 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 420 of the SCN1A protein (p.Ala420Val). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: 189996). This missense change has been observed in individual(s) with SCN1A-related conditions (PMID: 22944210). This variant is not present in population databases (gnomAD no frequency).

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