ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.3013A>C (p.Met1005Leu) (rs768817912)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703242 SCV000832135 uncertain significance Familial focal epilepsy with variable foci 2019-09-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 1083 of the DEPDC5 protein (p.Met1083Leu). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and leucine. This variant is present in population databases (rs768817912, ExAC 0.004%). This variant has not been reported in the literature in individuals with DEPDC5-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, Align-GVGD) both suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. The leucine 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. 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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