Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002588653 | SCV003495849 | uncertain significance | DYRK1A-related intellectual disability syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing | An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 2178558). 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%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 646 of the DYRK1A protein (p.Met646Val). 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. |
| Ambry Genetics | RCV004068851 | SCV004858698 | uncertain significance | Inborn genetic diseases | 2024-01-31 | criteria provided, single submitter | clinical testing | The c.1936A>G (p.M646V) alteration is located in exon 11 (coding exon 11) of the DYRK1A gene. This alteration results from a A to G substitution at nucleotide position 1936, causing the methionine (M) at amino acid position 646 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |