ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.864G>C (p.Trp288Cys)

dbSNP: rs2081100544
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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 RCV001039737 SCV001203281 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-05-02 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 288 of the KCNQ2 protein (p.Trp288Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNQ2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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