ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.413+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wangler Lab, Baylor College of Medicine RCV002294742 SCV002587797 likely pathogenic Epilepsy, familial focal, with variable foci 1 criteria provided, single submitter clinical testing This splice donor DEPDC5 variant at c.413+1G>A was seen on exome through the Texome project (R01HG011795).This variant has been observed in gnomAD with a frequency of <0.001%.This variant is predicted to disrupt the splicing donor site which may cause exon skipping, intron retention, or other splicing defects (SpliceAI: 0.900). We believe this variant is likely pathogenic.
Baylor Genetics RCV002294742 SCV003835625 likely pathogenic Epilepsy, familial focal, with variable foci 1 2022-09-20 criteria provided, single submitter clinical testing

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