ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4443+1A>G (rs796053014)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201073 SCV000255829 pathogenic Severe myoclonic epilepsy in infancy 2013-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000188953 SCV000242584 pathogenic not provided 2014-06-04 criteria provided, single submitter clinical testing c.4476+1 A>G: IVS23+1 A>G in intron 23 of the SCN1A gene (NM_001165963.1) The c.4476+1 A>G splice site mutation in the SCN1A gene has been reported previously in two individuals with classic Dravet syndrome (Zuberi et al., 2011), and as a de novo mutation in an individual with severe myoclonic epilepsy of infancy (Wang et al., 2012). This mutation destroys the canonical splice donor site in intron 23, and is expected to cause abnormal gene splicing. The variant is found in EPILEPSY panel(s).

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