Submissions for variant NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr)

dbSNP: rs147145506

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082351	SCV000114314	benign	not specified	2015-02-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000082351	SCV000169708	benign	not specified	2012-03-05	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.
Genetic Services Laboratory, University of Chicago	RCV000082351	SCV000195380	benign	not specified	2015-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV000227142	SCV000291318	benign	Angelman syndrome	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891577	SCV000315389	benign	UBE3A-related condition	2020-01-10	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics	RCV002311732	SCV000845909	benign	Inborn genetic diseases	2016-04-27	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000082351	SCV000256055	likely benign	not specified	2015-03-06	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000082351	SCV001799600	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000082351	SCV001928343	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082351	SCV001967701	benign	not specified		no assertion criteria provided	clinical testing