ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.4271A>G (p.Gln1424Arg) (rs377585542)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536087 SCV000642200 uncertain significance Familial focal epilepsy with variable foci 2019-05-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1524 of the DEPDC5 protein (p.Gln1524Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs377585542, ExAC 0.009%). 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 (SIFT, PolyPhen-2, Align-GVGD) 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997910 SCV001153676 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing

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