ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.968A>G (p.Asn323Ser) (rs201776005)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034629 SCV000642207 uncertain significance Familial focal epilepsy with variable foci 2019-09-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 323 of the DEPDC5 protein (p.Asn323Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs201776005, 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; Align-GVGD: "Class C15"). 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 RCV000718495 SCV000849359 uncertain significance Seizures 2017-04-14 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Fulgent Genetics,Fulgent Genetics RCV000554818 SCV000896957 uncertain significance Epilepsy, familial focal, with variable foci 1 2018-10-31 criteria provided, single submitter clinical testing

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