ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3224G>A (p.Ser1075Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036376 SCV001199737 uncertain significance Familial focal epilepsy with variable foci 2019-05-30 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1075 of the DEPDC5 protein (p.Ser1075Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with epilepsy and intellectual disability in whom a truncating variant in a different gene (p.Gln902* in CASP8AP2) could not be ruled out as cause of disease (PMID: 30525188). 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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