Submissions for variant NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro)

gnomAD frequency: 0.00017  dbSNP: rs142540948

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078573	SCV001010390	likely benign	Familial focal epilepsy with variable foci	2024-01-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000869001	SCV001153674	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	DEPDC5: BP4
Ambry Genetics	RCV002321938	SCV002609466	likely benign	Inborn genetic diseases	2018-12-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
GeneReviews	RCV000254608	SCV000321058	not provided	Epilepsy, familial focal, with variable foci 1		no assertion provided	literature only
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000656073	SCV000588349	pathogenic	Childhood epilepsy with centrotemporal spikes	2017-01-01	no assertion criteria provided	case-control	CAADphred>15
PreventionGenetics, part of Exact Sciences	RCV004751407	SCV005348534	likely benign	DEPDC5-related disorder	2024-07-09	no assertion criteria provided	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).