ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.4294A>G (p.Ser1432Gly) (rs752046892)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414002 SCV000491347 uncertain significance not specified 2016-10-12 criteria provided, single submitter clinical testing The S1532G variant in the DEPDC5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S1532G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S1532G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S1532G as a variant of uncertain significance.
Invitae RCV001067012 SCV001232040 uncertain significance Familial focal epilepsy with variable foci 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 1532 of the DEPDC5 protein (p.Ser1532Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs752046892, ExAC 0.002%). This variant has not been reported in the literature in individuals with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 372819). 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.

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