ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1662+3A>G

dbSNP: rs794726773
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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 RCV000180889 SCV000221861 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001850420 SCV002286897 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-03-18 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. 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: 189936). This variant is also known as IVS10+3A>G. This variant has been observed in individual(s) with Dravet syndrome (PMID: 19350499). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 10 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.

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