ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2103A>G (p.Ala701=)

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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 RCV002885466 SCV003241832 uncertain significance Familial focal epilepsy with variable foci 2022-03-26 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 disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is present in population databases (rs755421452, gnomAD 0.02%). This sequence change affects codon 701 of the DEPDC5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DEPDC5 protein. It affects a nucleotide within the consensus splice site.

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