Submissions for variant NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=)

gnomAD frequency: 0.00028  dbSNP: rs150870424

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193823	SCV000249021	uncertain significance	not specified	2014-11-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001705091	SCV000730093	benign	not provided	2019-04-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317711	SCV000851429	likely benign	Inborn genetic diseases	2017-01-09	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.
Invitae	RCV000868921	SCV001010303	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808553	SCV002056549	likely benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977531	SCV004790351	likely benign	SPTAN1-related condition	2019-04-05	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).