Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000357180 | SCV000330601 | pathogenic | not provided | 2016-06-21 | criteria provided, single submitter | clinical testing | The c.368delA variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.368delA variant causes a frameshift starting with codon Glutamine 123, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 27 of the new reading frame, denoted p.Gln123ArgfsX27. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.368delA variant was not observed in approximately 6.500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on the currently available information, we interpret c.368delA as a pathogenic variant. |