Submissions for variant NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)

gnomAD frequency: 0.00073  dbSNP: rs143108250

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147630	SCV000195079	uncertain significance	Developmental and epileptic encephalopathy, 5	2014-04-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000713513	SCV000243151	benign	not provided	2019-02-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000147630	SCV000611435	uncertain significance	Developmental and epileptic encephalopathy, 5	2017-05-23	criteria provided, single submitter	clinical testing
Invitae	RCV001085811	SCV000633777	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-11	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713513	SCV000844134	likely benign	not provided	2018-04-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316952	SCV000851463	benign	Inborn genetic diseases	2018-12-28	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000147630	SCV002056572	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551283	SCV004764712	likely benign	SPTAN1-related disorder	2022-08-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).