ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.913C>T (p.Arg305Cys)

dbSNP: rs1236737877
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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 RCV001949358 SCV002237819 pathogenic Early myoclonic encephalopathy 2021-09-10 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 KCND2 protein function. This missense change has been observed in individual(s) with clinical features of epilepsy and autism spectrum disorder (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 305 of the KCND2 protein (p.Arg305Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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