Submissions for variant NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=)

gnomAD frequency: 0.00101  dbSNP: rs150731568

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128242	SCV000171834	benign	not specified	2014-03-20	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	RCV000636532	SCV000757971	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316420	SCV000850498	likely benign	Inborn genetic diseases	2017-08-02	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	RCV001808364	SCV002056649	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003221818	SCV003917708	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	SPTAN1: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV003221818	SCV005227589	likely benign	not provided		criteria provided, single submitter	not provided