Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493407 | SCV000583054 | likely benign | not provided | 2019-12-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001336363 | SCV001529726 | uncertain significance | DYRK1A-related intellectual disability syndrome | 2018-02-19 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001336363 | SCV003253061 | uncertain significance | DYRK1A-related intellectual disability syndrome | 2023-06-10 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. This variant is present in population databases (rs142149555, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 637 of the DYRK1A protein (p.Thr637Met). ClinVar contains an entry for this variant (Variation ID: 430283). 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. 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. |