ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2438G>C (p.Ser813Thr) (rs185576553)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468124 SCV000546540 uncertain significance Familial focal epilepsy with variable foci 2019-10-18 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 891 of the DEPDC5 protein (p.Ser891Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs185576553, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with DEPDC5-related disease. ClinVar contains an entry for this variant (Variation ID: 407353). 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 tolerated, 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 RCV000720745 SCV000851626 likely benign Seizures 2017-07-28 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance);Subpopulation frequency in support of benign classification

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