Submissions for variant NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)

gnomAD frequency: 0.00218  dbSNP: rs181347577

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001080161	SCV000286364	benign	Familial focal epilepsy with variable foci	2024-01-17	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513993	SCV000610347	likely benign	not provided	2017-06-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315690	SCV000848854	benign	Inborn genetic diseases	2016-10-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics	RCV000990423	SCV001141408	likely benign	Epilepsy, familial focal, with variable foci 1	2019-05-28	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000990423	SCV001440757	likely benign	Epilepsy, familial focal, with variable foci 1	2019-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000513993	SCV001945854	benign	not provided	2018-09-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000990423	SCV002039967	benign	Epilepsy, familial focal, with variable foci 1	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513993	SCV002563717	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	DEPDC5: BP4
PreventionGenetics, part of Exact Sciences	RCV003919942	SCV004728985	likely benign	DEPDC5-related disorder	2020-02-05	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000656069	SCV000588345	pathogenic	Childhood epilepsy with centrotemporal spikes	2017-01-01	no assertion criteria provided	case-control	CAADphred>15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000513993	SCV001742215	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000513993	SCV001928867	likely benign	not provided		no assertion criteria provided	clinical testing