Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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). |