ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2851A>G (p.Thr951Ala) (rs537257402)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720070 SCV000850946 likely benign Seizures 2016-03-04 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Athena Diagnostics Inc RCV000991882 SCV001143717 uncertain significance not provided 2020-09-29 criteria provided, single submitter clinical testing
Invitae RCV001056491 SCV001220934 uncertain significance Familial focal epilepsy with variable foci 2020-07-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1029 of the DEPDC5 protein (p.Thr1029Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs537257402, ExAC 0.05%). This variant has not been reported in the literature in individuals with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 589805). 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 alanine 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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