Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002725435 | SCV002990568 | uncertain significance | DYRK1A-related intellectual disability syndrome | 2022-10-14 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. This variant is present in population databases (rs775938240, gnomAD 0.005%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 638 of the DYRK1A protein (p.Asn638Ser). |