ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1789dup (p.Trp597fs)

dbSNP: rs1595601899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008254 SCV001168020 pathogenic not provided 2018-07-19 criteria provided, single submitter clinical testing The c.1729dupT pathogenic variant in the UBE3A gene causes a frameshift starting with codon Tryptophan 577, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Trp577LeufsX3. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1729dupT variant is not observed in large population cohorts (Lek et al., 2016).

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