Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493767 | SCV000582588 | pathogenic | not provided | 2015-10-29 | criteria provided, single submitter | clinical testing | The c.1384dupT duplication in the DYRK1A gene has not been reported previously as a pathogenic variantnor as a benign variant, to our knowledge. The c.1384dupT variant causes a frameshift starting with codon Tyrosine462, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 2 of the newreading frame, denoted p.Tyr462LeufsX2. This variant is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay. The c.1384dupT variant was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. We interpret c.1384dupT as a pathogenicvariant. |