ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3760G>A (p.Gly1254Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003092735 SCV003481919 uncertain significance Familial focal epilepsy with variable foci 2022-09-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. 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. 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 C55"). This variant is present in population databases (rs746114133, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1254 of the DEPDC5 protein (p.Gly1254Ser).

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