ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1613T>C (p.Phe538Ser)

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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 RCV003825812 SCV004623299 uncertain significance Early myoclonic encephalopathy 2023-01-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KCND2-related conditions. This variant is present in population databases (rs773411803, gnomAD 0.03%). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 538 of the KCND2 protein (p.Phe538Ser). 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.

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