ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2049G>A (p.Leu683=)

dbSNP: rs2148830090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001391867 SCV001593499 likely benign Familial focal epilepsy with variable foci 2025-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983885 SCV004800595 uncertain significance DEPDC5-related disorder 2024-02-07 no assertion criteria provided clinical testing The DEPDC5 c.2049G>A variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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