ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1525+1G>A

dbSNP: rs118192228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534709 SCV000634049 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2017-01-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ2 are known to be pathogenic. This particular variant has been reported to segregate with benign familial neonatal seizures in a single family (PMID: 25982755). This sequence change affects a donor splice site in intron 13 of the KCNQ2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
GeneReviews RCV000678058 SCV000041614 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy)

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