Submissions for variant NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=)

gnomAD frequency: 0.00036  dbSNP: rs147466898

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128240	SCV000171832	benign	not specified	2012-12-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081849	SCV000562989	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316419	SCV000851723	likely benign	Inborn genetic diseases	2017-05-25	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.
CeGaT Center for Human Genetics Tuebingen	RCV000463771	SCV001155751	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SPTAN1: BP4, BP7
Genome-Nilou Lab	RCV001808363	SCV002056547	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing