ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1870+3527A>C (rs370940232)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820870 SCV000961603 uncertain significance Familial focal epilepsy with variable foci 2019-05-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 689 of the DEPDC5 protein (p.Glu689Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is present in population databases (rs370940232, ExAC 0.01%). This variant has been observed in an individual affected with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 433142). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997905 SCV001153669 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656070 SCV000588346 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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