Submissions for variant NM_006950.3(SYN1):c.1569G>A (p.Ala523=)

gnomAD frequency: 0.00022  dbSNP: rs587781185

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128352	SCV000171946	benign	not specified	2013-05-14	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.
Eurofins Ntd Llc (ga)	RCV000727280	SCV000707191	uncertain significance	not provided	2017-04-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082665	SCV001004508	likely benign	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	2024-01-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727280	SCV001156015	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	SYN1: BP4, BP7, BS2
Ambry Genetics	RCV002399505	SCV002708788	likely benign	Inborn genetic diseases	2018-07-13	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.