ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1966G>A (p.Glu656Lys)

gnomAD frequency: 0.00001  dbSNP: rs545544936
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235343 SCV001408024 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-03-07 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 961623). This missense change has been observed in individual(s) with epilepsy (PMID: 31164858). This variant is present in population databases (rs545544936, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 656 of the KCNQ2 protein (p.Glu656Lys).

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