Submissions for variant NM_001242897.2(DEPDC5):c.1870+3487C>G (rs199603004)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000720819	SCV000851703	uncertain significance	Seizures	2017-05-19	criteria provided, single submitter	clinical testing	Insufficient evidence
Invitae	RCV001056517	SCV001220962	uncertain significance	Familial focal epilepsy with variable foci	2019-06-04	criteria provided, single submitter	clinical testing	This sequence change replaces proline with alanine at codon 676 of the DEPDC5 protein (p.Pro676Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs199603004, ExAC 0.02%). This variant has not been reported in the literature in individuals with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 590145). 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.

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