Submissions for variant NM_003165.6(STXBP1):c.1804A>G (p.Met602Val)

gnomAD frequency: 0.00044  dbSNP: rs141208884

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000189592	SCV000226910	likely benign	not specified	2017-06-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001533534	SCV000243235	benign	not provided	2021-06-07	criteria provided, single submitter	clinical testing
Invitae	RCV000543561	SCV000633895	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408761	SCV002717337	likely benign	Inborn genetic diseases	2018-08-28	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	RCV001533534	SCV004042367	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	STXBP1: PP2, BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV004552970	SCV004773244	likely benign	STXBP1-related disorder	2023-08-25	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).