ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1615C>T (p.Arg539Cys)

gnomAD frequency: 0.00001  dbSNP: rs757409386
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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 RCV002048854 SCV002311356 uncertain significance Early myoclonic encephalopathy 2020-12-18 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt KCND2 protein function. This variant has not been reported in the literature in individuals with KCND2-related conditions. This variant is present in population databases (rs757409386, ExAC 0.01%). This sequence change replaces arginine with cysteine at codon 539 of the KCND2 protein (p.Arg539Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.

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