ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.2461_2470del (p.Leu820_Lys821insTer)

dbSNP: rs1566825063
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318833 SCV000850252 pathogenic Inborn genetic diseases 2016-10-04 criteria provided, single submitter clinical testing The c.2401_2410del10 pathogenic mutation, located in coding exon 9 of the UBE3A gene, results from a deletion of 10 nucleotides at nucleotide positions 2401 to 2410, causing a predicted alternate stop codon (p.K801*). Premature stop codons are typically deleterious in nature; however, this stop codon is not expected to trigger nonsense-mediated mRNA decay because it occurs at the 3' terminus of the UBE3A gene. However, many pathogenic mutations past p.K801 position have been reported in patients suspected of having Angelman syndrome (Sadikovic B et al. Hum. Mutat., 2014 Dec;35:1407-17). This mutation is expected to remove a part of the catalytically important HECT domain of the UBE3A protein; biochemical analyses of mutations past p.K801 also revealed impaired protein functions (Cooper EM et al. J. Biol. Chem., 2004 Sep;279:41208-17). Based on the available evidence, c.2401_2410del10 is classified as a pathogenic mutation.

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