Submissions for variant NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=)

gnomAD frequency: 0.00012  dbSNP: rs138634476

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128279	SCV000171871	benign	not specified	2014-02-21	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	RCV000541122	SCV000633803	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311027	SCV001501049	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SPTAN1: BP4, BP7
Genome-Nilou Lab	RCV001808393	SCV002056724	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381444	SCV002670410	likely benign	Inborn genetic diseases	2018-04-13	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.