ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.359C>A (p.Ala120Asp)

gnomAD frequency: 0.00001  dbSNP: rs1199722034
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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 RCV001347150 SCV001541398 uncertain significance Early myoclonic encephalopathy 2021-02-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with KCND2-related conditions. This sequence change replaces alanine with aspartic acid at codon 120 of the KCND2 protein (p.Ala120Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency).

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