Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493743 | SCV000582877 | pathogenic | not provided | 2017-05-19 | criteria provided, single submitter | clinical testing | The c.457delG variant in the UBE3A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Glutamic Acid 153, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 153 of the new reading frame, denoted p.Glu153LysfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.457delG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.457delG as a pathogenic variant. |