Submissions for variant NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=)

gnomAD frequency: 0.00059  dbSNP: rs142595450

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128321	SCV000171914	benign	not specified	2013-04-03	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	RCV000463015	SCV000558518	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312621	SCV000845935	likely benign	Inborn genetic diseases	2016-09-14	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	RCV003884357	SCV004701574	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	STXBP1: BP4, BP7