Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000390632 | SCV000330533 | pathogenic | not provided | 2016-05-11 | criteria provided, single submitter | clinical testing | The c.1013_1020delATGACCTT pathogenic variant in the DYRK1A 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 Tyrosine 338, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Tyr338CysfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1013_1020delATGACCTT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1013_1020delATGACCTT as a pathogenic variant. |