ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1626C>A (p.Cys542Ter)

dbSNP: rs376106351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481279 SCV000570013 likely pathogenic not provided 2016-04-15 criteria provided, single submitter clinical testing The C551X 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 through protein truncation. The C551X 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 C551X as a likely pathogenic variant
GenomeConnect - Simons Searchlight RCV001265302 SCV001443419 pathogenic Complex neurodevelopmental disorder 2018-08-13 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-08-13 and interpreted as Pathogenic. Variant was initially reported on 2016-05-06 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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