Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002862062 | SCV003223111 | pathogenic | DYRK1A-related intellectual disability syndrome | 2022-07-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the DYRK1A protein in which other variant(s) (p.Gln576*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly539Valfs*54) in the DYRK1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 225 amino acid(s) of the DYRK1A protein. |