Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001294306 | SCV001483178 | uncertain significance | DYRK1A-related intellectual disability syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 2 of the DYRK1A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). This variant is present in population databases (rs552103257, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 998447). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001814302 | SCV002061460 | uncertain significance | not provided | 2021-06-02 | criteria provided, single submitter | clinical testing | PM2 |
Gene |
RCV001814302 | SCV003195203 | uncertain significance | not provided | 2022-07-20 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |