ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1525+1G>A (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 2017-01-17 criteria provided, single submitter clinical testing 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. 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). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000678058 SCV000041614 pathogenic Benign familial neonatal seizures 1 2016-03-31 no assertion criteria provided literature only BFNE (benign familial neonatal epilepsy)

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