Submissions for variant NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)

gnomAD frequency: 0.00001  dbSNP: rs371296838

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	RCV002056886	SCV003934943	likely benign	Angelman syndrome	2023-06-16	reviewed by expert panel	curation	The allele frequency of the c.1905A>G p.Leu635= variant in UBE3A (NM_130838.2) is 0.01% in the African/African American sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The silent p.Leu635= 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.1905A>G p.Leu635= variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BP4, BP7).
Genetic Services Laboratory, University of Chicago	RCV000501444	SCV000597811	likely benign	not specified	2017-04-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000729891	SCV000857587	uncertain significance	not provided	2017-10-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000729891	SCV001900864	likely benign	not provided	2021-03-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002056886	SCV002372143	likely benign	Angelman syndrome	2023-06-10	criteria provided, single submitter	clinical testing