ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1662+2T>C

dbSNP: rs1131691545
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492939 SCV000582345 pathogenic not provided 2016-05-20 criteria provided, single submitter clinical testing The c.1662+2 T>C splice site variant in the SCN1A gene has been previously reported as a de novo pathogenic variant in an individual with severe myoclonic epilepsy of infancy (Harkin et al., 2007). This variantdestroys the canonical splice donor site in intron 10, and is expected to cause abnormal gene splicing. Therefore, c.1662+2 T>C in SCN1A is interpreted as a pathogenic variant.

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