ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1738A>G (p.Met580Val)

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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 RCV003499816 SCV004354395 uncertain significance Early myoclonic encephalopathy 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 580 of the KCND2 protein (p.Met580Val). This variant is present in population databases (rs201942568, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with KCND2-related conditions. 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 with a negative predictive value of 95%. 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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