ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.730T>C (p.Cys244Arg)

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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 RCV003005994 SCV003303622 pathogenic Developmental and epileptic encephalopathy, 32 2022-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 KCNA2 protein function. This missense change has been observed in individual(s) with clinical features of autosomal dominant KCNA2-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 cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 244 of the KCNA2 protein (p.Cys244Arg).

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