Submissions for variant NM_001242896.3(DEPDC5):c.1958dup (p.His653fs)

gnomAD frequency: 0.00001  dbSNP: rs1475605360

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000479723	SCV000570070	likely pathogenic	not provided	2021-01-25	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000479723	SCV001447277	likely pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV005056050	SCV005713071	pathogenic	Familial focal epilepsy with variable foci	2024-08-24	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.His653Glnfs*13) 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 present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 421006). For these reasons, this variant has been classified as Pathogenic.
GenomeConnect, ClinGen	RCV004545773	SCV000606963	not provided	DEPDC5-related disorder		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.