ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.264+5G>C

dbSNP: rs794726762
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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 RCV000180877 SCV000221846 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Invitae RCV001212061 SCV001383634 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-11-01 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the SCN1A gene. It does not directly change the encoded amino acid sequence of the SCN1A protein. It affects a nucleotide within the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the c.264+2G nucleotide in the SCN1A gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 17054684, 25669891). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 189925). This variant has been observed in individual(s) with Dravet syndrome (PMID: 26096185). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).

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