ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3705+5G>A

dbSNP: rs1060502189
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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 RCV000461916 SCV000548772 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-09-29 criteria provided, single submitter clinical testing This sequence change falls in intron 18 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 of the intron. 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: 408931). This variant has been observed in individual(s) with clinical features of epileptic encephalopathy and/or Dravet syndrome (PMID: 22140375, 31864146; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency).
Mendelics RCV000986887 SCV001136037 likely pathogenic Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing

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