ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1341C>A (p.Ser447Arg)

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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 RCV002929002 SCV003274203 uncertain significance Early myoclonic encephalopathy 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 447 of the KCND2 protein (p.Ser447Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with nocturnal atrial fibrillation (PMID: 30571183). ClinVar contains an entry for this variant (Variation ID: 2065197). 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 80%. Experimental studies have shown that this missense change affects KCND2 function (PMID: 30571183). 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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