ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.694+5G>C

dbSNP: rs727504142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153902 SCV000203515 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing
Center for Bioinformatics, Peking University RCV000180927 SCV000221907 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Invitae RCV001362206 SCV001558210 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-08-30 criteria provided, single submitter clinical testing This sequence change falls in intron 5 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. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of SCN1A-related conditions and/or Dravet syndrome (PMID: 26096185; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 167647). 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. For these reasons, this variant has been classified as Pathogenic.

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