ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1082-3T>A

gnomAD frequency: 0.00005  dbSNP: rs780547994
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053448 SCV001217708 uncertain significance Familial focal epilepsy with variable foci 2023-11-27 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the DEPDC5 gene. It does not directly change the encoded amino acid sequence of the DEPDC5 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs780547994, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 849478). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
CeGaT Center for Human Genetics Tuebingen RCV002292601 SCV002585922 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing DEPDC5: BP4

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