ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2100C>A (p.Asn700Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003753793 SCV004550744 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-08-20 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 tolerated. This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 700 of the KCNQ2 protein (p.Asn700Lys).

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