ClinVar Miner

Submissions for variant NM_000462.5(UBE3A):c.2544_2560del (p.Leu849fs) (rs1064792950)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470807 SCV000548106 pathogenic Angelman syndrome 2016-06-17 criteria provided, single submitter clinical testing This sequence change deletes 17 nucleotides in exon 10 of the UBE3A mRNA (c.2475_2491delACTTCCGGAATACTCAA), causing a frameshift at codon 826. This creates a premature translational stop signal in the last exon of the UBE3A mRNA (p.Leu826Glnfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated UBE3A protein. While this particular variant has not been reported in the literature, maternally-inherited truncating variants in UBE3A are known to be pathogenic (PMID: 25212744). In addition, several frameshift variants that occur downstream of this variant have been reported in affected individuals (PMID: 25212744). For these reasons, this variant has been classified as Pathogenic.

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