Submissions for variant NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)

gnomAD frequency: 0.00096  dbSNP: rs139082033

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV000144354	SCV002540715	benign	Angelman syndrome	2022-06-30	reviewed by expert panel	curation	The allele frequency of the c.1707C>T p.(Tyr569=) variant in UBE3A (NM_130838.2) is 0.15% in the European (non-Finnish) sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the c.1707C>T p.(Tyr569=) variant in UBE3A is classified as Benign based on the ACMG/AMP criteria (BA1).
GeneDx	RCV000192008	SCV000169714	benign	not specified	2016-07-15	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	RCV000192008	SCV000195349	likely benign	not specified	2015-08-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000192008	SCV000335164	benign	not specified	2017-04-05	criteria provided, single submitter	clinical testing
Invitae	RCV000144354	SCV000559143	benign	Angelman syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000192008	SCV000616226	benign	not specified	2017-04-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316377	SCV000850436	likely benign	Inborn genetic diseases	2017-01-25	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.
CeGaT Center for Human Genetics Tuebingen	RCV001705914	SCV004131436	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	UBE3A: BP4, BP7
Baylor Genetics	RCV000144354	SCV000188531	uncertain significance	Angelman syndrome	2014-02-14	no assertion criteria provided	clinical testing	possible diagnosis of Angelman syndrome
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705914	SCV001932110	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000192008	SCV001951296	benign	not specified		no assertion criteria provided	clinical testing