ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.573G>A (p.Thr191=)

dbSNP: rs780770259
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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 RCV001371228 SCV001567786 uncertain significance Early myoclonic encephalopathy 2021-02-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 variant is not present in population databases (ExAC no frequency). This sequence change affects codon 191 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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