Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001760846 | SCV001991475 | uncertain significance | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002538817 | SCV003504453 | uncertain significance | DYRK1A-related intellectual disability syndrome | 2022-05-06 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 593 of the DYRK1A protein (p.Pro593Ser). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DYRK1A protein function. ClinVar contains an entry for this variant (Variation ID: 1307428). This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). |