ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.232del (p.Arg78fs)

dbSNP: rs2082695884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091568 SCV001247693 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV001386317 SCV001586505 pathogenic Familial focal epilepsy with variable foci 2023-02-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg78Glyfs*2) in the DEPDC5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with nocturnal frontal lobe epilepsy or familial focal epilepsy with variable foci (PMID: 30093711). ClinVar contains an entry for this variant (Variation ID: 871543).
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526550 SCV001736975 likely pathogenic Seizure criteria provided, single submitter research

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