Submissions for variant NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=)

gnomAD frequency: 0.00257  dbSNP: rs138609094

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000179370	SCV000171818	benign	not specified	2014-01-24	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.
Eurofins Ntd Llc (ga)	RCV000179370	SCV000231608	likely benign	not specified	2014-05-07	criteria provided, single submitter	clinical testing
Invitae	RCV000472180	SCV000562970	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316415	SCV000850419	likely benign	Inborn genetic diseases	2016-03-21	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	RCV001808355	SCV002056626	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001808355	SCV002805413	likely benign	Developmental and epileptic encephalopathy, 5	2021-07-07	criteria provided, single submitter	clinical testing