ClinVar Miner

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

dbSNP: rs552103257
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500398 SCV000594480 likely benign not specified 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000658192 SCV000779963 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25707398, 28263302)
Invitae RCV000202627 SCV000835911 uncertain significance DYRK1A-related intellectual disability syndrome 2023-12-30 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individual(s) with clinical features of DYRK1A-related conditions (PMID: 25707398). Disruption of this splice site has been observed in at least one individual who was not affected with DYRK1A-related conditions (PMID: 25707398). ClinVar contains an entry for this variant (Variation ID: 218379). Studies have shown that disruption of this splice site does not affect mRNA splicing (PMID: 25707398). 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.
Revvity Omics, Revvity RCV000202627 SCV003830816 uncertain significance DYRK1A-related intellectual disability syndrome 2021-09-08 criteria provided, single submitter clinical testing
GeneReviews RCV000202627 SCV000257566 not provided DYRK1A-related intellectual disability syndrome no assertion provided literature only

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