ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.710T>A (p.Met237Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003044809 SCV003351026 pathogenic Benign neonatal seizures 2022-06-15 criteria provided, single submitter clinical testing 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 KCNQ3 protein function. This missense change has been observed in individual(s) with clinical features of autosomal dominant KCNQ3-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 237 of the KCNQ3 protein (p.Met237Lys). For these reasons, this variant has been classified as Pathogenic.

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