Submissions for variant NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)

gnomAD frequency: 0.00217  dbSNP: rs144787939

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000189431	SCV000195053	likely benign	not specified	2015-04-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001355233	SCV000243071	benign	not provided	2018-06-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25224718)
Invitae	RCV000466688	SCV000562972	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312980	SCV000848411	likely benign	Inborn genetic diseases	2019-04-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Genome-Nilou Lab	RCV001808404	SCV002056634	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001808404	SCV002795761	likely benign	Developmental and epileptic encephalopathy, 5	2022-01-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001355233	SCV004160802	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	SPTAN1: BS1
PreventionGenetics, part of Exact Sciences	RCV003917456	SCV004731273	benign	SPTAN1-related condition	2019-05-01	criteria provided, single submitter	clinical testing	This variant is classified as 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	RCV000656021	SCV000588297	pathogenic	Childhood epilepsy with centrotemporal spikes	2017-01-01	flagged submission	case-control	CAADphred>15
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001355233	SCV001550057	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001355233	SCV001932426	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001355233	SCV001962810	likely benign	not provided		no assertion criteria provided	clinical testing