ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.151C>T (p.Arg51Cys)

gnomAD frequency: 0.00001  dbSNP: rs751823176
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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 RCV001317812 SCV001508488 uncertain significance Early myoclonic encephalopathy 2020-03-10 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces arginine with cysteine at codon 51 of the KCND2 protein (p.Arg51Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs751823176, ExAC 0.01%). This variant has not been reported in the literature in individuals with KCND2-related conditions. 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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