ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2342C>T (p.Thr781Met) (rs200744555)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034670 SCV000764178 uncertain significance Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 859 of the DEPDC5 protein (p.Thr859Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200744555, ExAC 0.02%), 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 conditions. ClinVar contains an entry for this variant (Variation ID: 534801). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available; Align-GVGD: "Class C0"). 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.
Fulgent Genetics,Fulgent Genetics RCV000642493 SCV000895415 uncertain significance Epilepsy, familial focal, with variable foci 1 2018-10-31 criteria provided, single submitter clinical testing
New York Genome Center RCV001254994 SCV001431082 uncertain significance not provided 2020-01-10 no assertion criteria provided clinical testing

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