ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1153C>T (p.Arg385Trp) (rs200020310)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513250 SCV000609077 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Invitae RCV000554939 SCV000642147 uncertain significance Familial focal epilepsy with variable foci 2019-11-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 385 of the DEPDC5 protein (p.Arg385Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs200020310, ExAC 0.01%). This variant has not been reported in the literature in individuals with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 444583). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV000719032 SCV000849896 uncertain significance Seizures 2017-06-12 criteria provided, single submitter clinical testing The p.R385W variant (also known as c.1153C>T), located in coding exon 16 of the DEPDC5 gene, results from a C to T substitution at nucleotide position 1153. The arginine at codon 385 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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