ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.383+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771693 SCV005382375 likely pathogenic Severe myoclonic epilepsy in infancy 2023-05-20 criteria provided, single submitter clinical testing The splice donor c.383+2T>C variant in the SCN1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in gnomAD Exomes. The variant affects the GT donor splice site downstream of exon 5. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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