ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4583G>A (p.Arg1528Gln)

gnomAD frequency: 0.00001  dbSNP: rs758757956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056860 SCV001221325 uncertain significance Familial focal epilepsy with variable foci 2023-01-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 852283). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is present in population databases (rs758757956, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1528 of the DEPDC5 protein (p.Arg1528Gln). 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: "Deleterious"; 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.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV002479347 SCV002774949 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing

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