ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4581+5G>C

dbSNP: rs1559114303
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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 RCV000692314 SCV000820129 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 571229). This variant has been observed in individual(s) with Dravet syndrome and SCN1A-related disorder (PMID: 25459969; Invitae). 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 24 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.
MGZ Medical Genetics Center RCV002289971 SCV002580692 likely pathogenic Severe myoclonic epilepsy in infancy 2022-01-31 criteria provided, single submitter clinical testing

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