ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.346_348del (p.Lys116del)

dbSNP: rs118192192
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851983 SCV002169611 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-06-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant, c.346_348del, results in the deletion of 1 amino acid(s) of the KCNQ2 protein (p.Lys116del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of KCNQ2-related conditions (PMID: 18625963). ClinVar contains an entry for this variant (Variation ID: 21785). Experimental studies have shown that this variant affects KCNQ2 protein function (PMID: 18625963).
GeneReviews RCV000678076 SCV000041637 not provided Benign neonatal seizures no assertion provided literature only ABPE (atypical benign partial epilepsy)

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