ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.871+1G>T

dbSNP: rs1556607762
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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 RCV002232307 SCV000642204 likely pathogenic Familial focal epilepsy with variable foci 2017-05-14 criteria provided, single submitter clinical testing In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 26505888). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This sequence change affects a donor splice site in intron 13 of the DEPDC5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a DEPDC5-related disease.

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