Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008591 | SCV001168364 | pathogenic | not provided | 2019-03-08 | criteria provided, single submitter | clinical testing | The c.841dupC variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.841dupC variant causes a frameshift starting with codon Leucine 281, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu281ProfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.841dupC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.841dupC as a pathogenic variant, |