ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1541dup (p.Gln515fs)

dbSNP: rs1064796224
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484005 SCV000572739 pathogenic not provided 2017-01-24 criteria provided, single submitter clinical testing The c.1481dupA pathogenic variant in the UBE3A gene causes a frameshift starting with codon Glutamine 495, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Gln495AlafsX11. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Many other frameshift and loss of function variants have been reported in the Human Gene Mutation Database in association with Angelman syndrome (Stenson et al., 2014).

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