ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2562+1G>T (rs796053113)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189115 SCV000242747 pathogenic not provided 2012-12-31 criteria provided, single submitter clinical testing c.2562+1 G>T: IVS15+1 G>T in intron 15 of the SCN2A gene (NM_021007.2). The c.2562+1 G>T splice site mutation in the SCN2A gene destroys the canonical splice donor site in intron 15. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although splice site mutations have not been previously reported in the SCN2A gene, other loss of function mutations have been published in association with epilepsy. The variant is found in EPILEPSY panel(s).

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