ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.280-2A>G

dbSNP: rs2148127827
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386068 SCV001586159 pathogenic Familial focal epilepsy with variable foci 2020-08-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the DEPDC5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of familial focal epilepsy or autosomal dominant nocturnal frontal lobe epilepsy (Invitae). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.

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