Submissions for variant NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)

gnomAD frequency: 0.00005  dbSNP: rs143000400

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV000144338	SCV002540716	likely benign	Angelman syndrome	2022-06-30	reviewed by expert panel	curation	The c.1119T>C p.(Asp373=) variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.006% in the European (non-Finnish) sub population (no criteria met). The silent p.(Asp373=) variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). In summary, the c.1119T>C p.(Asp373=) variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BP4, BP7).
GeneDx	RCV001711293	SCV000169710	likely benign	not provided	2021-04-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25212744)
Genetic Services Laboratory, University of Chicago	RCV000126215	SCV000195336	likely benign	not specified	2017-06-22	criteria provided, single submitter	clinical testing
Invitae	RCV000144338	SCV001653735	likely benign	Angelman syndrome	2023-04-24	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000144338	SCV000188515	uncertain significance	Angelman syndrome	2014-02-14	no assertion criteria provided	clinical testing	possible diagnosis of Angelman syndrome