ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.297-2A>G

dbSNP: rs796052615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187849 SCV000241449 pathogenic not provided 2014-07-29 criteria provided, single submitter clinical testing c.297-2 A>G: IVS1-2 A>G in intron 1 of the KCNQ2 gene (NM_172107.2)The c.297-2 A>G splice site mutation in the KCNQ2 gene has been previously reported in a family with benign familial neonatal-infantile seizures (Zara et al., 2013). This mutation destroys the canonical splice acceptor site in intron 1 and is expected to cause abnormal gene splicing. The variant is found in INFANT-EPI panel(s).
GeneReviews RCV000678114 SCV000484549 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNIS (benign familial neonatal-infantile seizures)

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