ClinVar Miner

Submissions for variant NM_001354550.2(UBE3A):c.361+4763_361+4767del (rs863225068)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633514 SCV000754751 pathogenic Angelman syndrome 2018-05-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr471*) in the UBE3A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in 2 siblings and an unrelated individual affected with Angelman syndrome (PMID: 14981718, 19213023). This variant has also been reported as c.1993del5 and c.1407_1411del5 in the literature. ClinVar contains an entry for this variant (Variation ID: 217362). Loss-of-function variants in UBE3A are known to be pathogenic (PMID: 25212744). For these reasons, this variant has been classified as Pathogenic.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000633514 SCV000965727 pathogenic Angelman syndrome 2016-01-01 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000201275 SCV000256051 pathogenic not provided 2015-03-06 no assertion criteria provided clinical testing

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