Submissions for variant NM_001242896.3(DEPDC5):c.4689_4690del (p.Gly1564_Asp1565insTer)

dbSNP: rs2149449670

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002000122	SCV002228906	pathogenic	Familial focal epilepsy with variable foci	2023-10-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Asp1565*) in the DEPDC5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acid(s) of the DEPDC5 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of DEPDC5-related conditions (PMID: 28549235). In at least one individual the variant was observed to be de novo. This variant is also known as c.4662_4663delAG p.D1556*. ClinVar contains an entry for this variant (Variation ID: 1453093). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects DEPDC5 function (PMID: 31639411). For these reasons, this variant has been classified as Pathogenic.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV002254361	SCV002525502	uncertain significance	Autosomal dominant nocturnal frontal lobe epilepsy	2022-03-18	criteria provided, single submitter	clinical testing	PM2, PP5.