ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter)

dbSNP: rs746177928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256014 SCV000322583 pathogenic not provided 2016-06-06 criteria provided, single submitter clinical testing The Y219X pathogenic variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y219X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Y219X as a pathogenic variant.
Invitae RCV003640883 SCV004458481 pathogenic DYRK1A-related intellectual disability syndrome 2023-04-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 265592). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr219*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381).
GenomeConnect - Simons Searchlight RCV001265300 SCV001443417 pathogenic Complex neurodevelopmental disorder 2018-09-17 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-17 and interpreted as Pathogenic. Variant was initially reported on 2016-06-12 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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