Submissions for variant NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=)

dbSNP: rs759833805

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189446	SCV000243086	benign	not specified	2015-01-16	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	RCV000539333	SCV000633766	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-09-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808486	SCV002056654	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444769	SCV002754065	likely benign	Inborn genetic diseases	2019-12-30	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	RCV003422088	SCV004156408	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	SPTAN1: BP4, BP7