Submissions for variant NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)

gnomAD frequency: 0.00054  dbSNP: rs143166100

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177733	SCV000229653	likely benign	not specified	2015-04-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001701540	SCV000243103	benign	not provided	2021-02-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29741288, 31515523)
Genetic Services Laboratory, University of Chicago	RCV000177733	SCV000249025	likely benign	not specified	2021-02-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000547579	SCV000633778	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317038	SCV000850651	likely benign	Inborn genetic diseases	2023-05-24	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.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000601636	SCV001440756	likely benign	Developmental and epileptic encephalopathy, 5	2019-01-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000601636	SCV002056585	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000601636	SCV002804506	likely benign	Developmental and epileptic encephalopathy, 5	2022-02-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701540	SCV004156417	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SPTAN1: BP4, BS1, BS2
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000656025	SCV000588301	pathogenic	Childhood epilepsy with centrotemporal spikes	2017-01-01	flagged submission	case-control	CAADphred>15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000601636	SCV000734648	likely benign	Developmental and epileptic encephalopathy, 5		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701540	SCV001932112	likely benign	not provided		no assertion criteria provided	clinical testing
OMIM	RCV001701540	SCV004037432	uncertain significance	not provided	2023-09-29	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004552997	SCV004766944	likely benign	SPTAN1-related disorder	2020-01-31	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).