Submissions for variant NM_130839.5(UBE3A):c.1272C>T (p.Pro424=)

dbSNP: rs1057520392

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV001482967	SCV003934945	likely benign	Angelman syndrome	2023-06-16	reviewed by expert panel	curation	The c.1212C>T p.Pro404= variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.0062% in the European (non-Finnish) sub population (no criteria met). The silent p.Pro404= 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.1212C>T p.Pro404= variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BP4, BP7).
GeneDx	RCV000418616	SCV000515221	likely benign	not specified	2017-06-22	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	RCV000418616	SCV000597814	uncertain significance	not specified	2016-12-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001482967	SCV001687348	likely benign	Angelman syndrome	2022-01-11	criteria provided, single submitter	clinical testing