ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.688T>G (p.Phe230Val)

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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 RCV002574474 SCV003487226 uncertain significance Early myoclonic encephalopathy 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 230 of the KCND2 protein (p.Phe230Val). This variant is present in population databases (rs113270247, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of KCND2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 2172926). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KCND2 protein function. 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.

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