ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.789C>T (p.Asn263=)

gnomAD frequency: 0.00003  dbSNP: rs1453409055
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV002062046 SCV003934942 likely benign Angelman syndrome 2023-06-16 reviewed by expert panel curation The c.729C>T p.Asn243= variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.003% in the Latino/Admixed American sub population (no criteria met). The silent p.Asn243= 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.729C>T p.Asn243= variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BP4, BP7).
Eurofins Ntd Llc (ga) RCV000727010 SCV000704893 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000727010 SCV000727612 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Invitae RCV002062046 SCV002383016 likely benign Angelman syndrome 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384298 SCV002674257 likely benign Inborn genetic diseases 2017-12-28 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.