ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val)

dbSNP: rs2105486615
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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 RCV001939397 SCV002235941 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-02-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Dravet syndrome (PMID: 31765958). 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. This variant disrupts the p.Ala1441 amino acid residue in SCN1A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25459968; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1441 of the SCN1A protein (p.Ala1441Val).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796692 SCV005416879 likely pathogenic 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_Moderate+PM5+PP2+PS4_Supporting+PP4

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