ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.557G>T (p.Gly186Val)

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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 RCV003754114 SCV004407381 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-10-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNQ2 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 186 of the KCNQ2 protein (p.Gly186Val).

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