ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.2230_2231dup (p.Tyr745fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224755 SCV003920617 pathogenic Angelman syndrome 2022-02-15 criteria provided, single submitter clinical testing UBE3A NM_000462.4 exon 11 p.Tyr748Serfs*19 (c.2239_2240dup): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is a duplication of 2 nucleotides at position 2239 and creates a frameshift and premature stop codon 19 amino acids downstream from this location which results in an absent or abnormal protein. Loss of function variants have been reported in association with disease for this gene (Sadikovic 2014 PMID:25212744). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic.

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