ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.208-28G>C

dbSNP: rs552103257
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Total submissions: 3
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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, Greenwood Genetic Center RCV001814302 SCV002061460 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing PM2
GeneDx 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

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