ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1281A>G (p.Lys427=)

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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 RCV002889908 SCV003240812 uncertain significance Early myoclonic encephalopathy 2022-10-11 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with KCND2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 427 of the KCND2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KCND2 protein.

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