Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002229724 | SCV000952862 | pathogenic | Familial focal epilepsy with variable foci | 2021-04-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). This variant has been observed in individuals with temporal lobe epilepsy and sudden unexpected death in epilepsy as well as one unaffected individual (PMID: 26505888, 26704558). ClinVar contains an entry for this variant (Variation ID: 264742). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1332*) in the DEPDC5 gene. It is expected to result in an absent or disrupted protein product. |
| 3billion | RCV000254607 | SCV002011984 | pathogenic | Epilepsy, familial focal, with variable foci 1 | 2021-10-02 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant has been reported as pathogenic (ClinVar ID: VCV000264742.2).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
| Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252069 | SCV002523581 | pathogenic | See cases | 2020-03-02 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PS4, PM2 |
| Ambry Genetics | RCV002374432 | SCV002625594 | pathogenic | Inborn genetic diseases | 2017-09-18 | criteria provided, single submitter | clinical testing | The p.R1332* variant (also known as c.3994C>T), located in coding exon 37 of the DEPDC5 gene, results from a C to T substitution at nucleotide position 3994. This changes the amino acid from an arginine to a stop codon within coding exon 37. In one study, this mutation was detected in an individual with temporal lobe epilepsy and focal cortical dysplasia (Ricos MG et al. Ann. Neurol., 2016 Jan;79:120-31). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Genetics and Molecular Pathology, |
RCV000254607 | SCV004175691 | pathogenic | Epilepsy, familial focal, with variable foci 1 | 2022-11-11 | criteria provided, single submitter | clinical testing | The DEPDC5 c.3994C>T variant is classified as PATHOGENIC (PVS1, PS4) The DEPDC5 c.3994C>T variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 1332 (PVS1). The variant has been reported in multiple individuals with focal epilepsy (PMID:30093711; PS4). This variant is absent from population databases but has been reported in dbSNP (rs886039269) and in the HGMD database: CM160826. It has been reported as pathogenic by other diagnostic laboratories (ClinVar Variation ID: 264742). |
| Gene |
RCV000254607 | SCV000321038 | not provided | Epilepsy, familial focal, with variable foci 1 | no assertion provided | literature only |