Submissions for variant NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=)

gnomAD frequency: 0.00045  dbSNP: rs75028792

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128275	SCV000171867	benign	not specified	2013-06-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000535634	SCV000633800	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312616	SCV000846749	likely benign	Inborn genetic diseases	2016-10-31	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.
Genome-Nilou Lab	RCV001808390	SCV002056718	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884355	SCV004700828	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SPTAN1: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003905221	SCV004733762	benign	SPTAN1-related condition	2019-05-22	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).