ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs587780991
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 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 2021-06-16 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

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.