ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1834G>A (p.Asp612Asn)

gnomAD frequency: 0.00006  dbSNP: rs151258092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247916 SCV002517227 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003093982 SCV003252945 uncertain significance Early myoclonic encephalopathy 2023-07-10 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. Experimental studies have shown that this missense change affects KCND2 function (PMID: 25214526). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 612 of the KCND2 protein (p.Asp612Asn). This variant is present in population databases (rs151258092, gnomAD 0.01%). This missense change has been observed in individual(s) with J-wave syndrome (PMID: 25214526). ClinVar contains an entry for this variant (Variation ID: 1684824). 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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