Submissions for variant NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)

gnomAD frequency: 0.00001  dbSNP: rs587780991

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	RCV000144329	SCV002540714	uncertain significance	Angelman syndrome	2022-06-30	reviewed by expert panel	curation	The c.2355T>C p.(Phe785=) variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.0062% in the African/African-American sub population (no criteria met). The silent p.(Phe785=) variant is not predicted to affect splicing using multiple computational tools, however this affects a highly conserved nucleotide (BP7 not met). The p.(Phe785=) variant has been observed in at least 1 unaffected mother of a patient with Angelman syndrome (PMID: 25212744) (BS2 not met). In summary, the c.2355T>C p.(Phe785=) variant in UBE3A is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (no criteria met).
GeneDx	RCV000995272	SCV000169716	likely benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25212744)
CeGaT Center for Human Genetics Tuebingen	RCV000995272	SCV001149363	likely benign	not provided	2019-02-01	criteria provided, single submitter	clinical testing
Invitae	RCV000144329	SCV001603656	likely benign	Angelman syndrome	2023-04-10	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000144329	SCV000188506	uncertain significance	Angelman syndrome	2014-02-14	no assertion criteria provided	clinical testing	possible diagnosis of Angelman syndrome