Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009064 | SCV001168874 | pathogenic | not provided | 2018-10-09 | criteria provided, single submitter | clinical testing | The c.1370_1373dupTAAG variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1370_1373dupTAAG variant causes a frameshift starting with codon Arginine 458, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Arg458SerfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1370_1373dupTAAG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1370_1373dupTAAG as a pathogenic variant. |