ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?)

dbSNP: rs587781232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000144308 SCV000249359 pathogenic Angelman syndrome 2016-02-22 criteria provided, single submitter clinical testing
GeneDx RCV004777603 SCV005389136 pathogenic not provided 2024-04-25 criteria provided, single submitter clinical testing Identified in a patient with mild developmental delay, moderate speech delay, and no seizures in published literature (PMID: 22566713); Stop codon loss and change to a Gln codon, leading to protein extension and the addition of 16 amino acids at the C-terminus in a gene for which protein extension is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22566713)
Baylor Genetics RCV000144308 SCV000172059 pathogenic Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing

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