ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2761C>T (p.Arg921Trp) (rs375050296)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642473 SCV000764156 uncertain significance Familial focal epilepsy with variable foci 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 999 of the DEPDC5 protein (p.Arg999Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs375050296, ExAC 0.01%). This variant has not been reported in the literature in individuals with DEPDC5-related disease. 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.

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