ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3170A>C (p.Gln1057Pro)

dbSNP: rs2092345185
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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 RCV001210953 SCV001382469 uncertain significance Familial focal epilepsy with variable foci 2021-08-05 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DEPDC5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 1057 of the DEPDC5 protein (p.Gln1057Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline.

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