ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter)

dbSNP: rs1057516030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000408621 SCV000484418 pathogenic DYRK1A-related intellectual disability syndrome 2016-11-10 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000408621 SCV001389966 pathogenic DYRK1A-related intellectual disability syndrome 2019-05-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr159*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DYRK1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 369658). Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). For these reasons, this variant has been classified as Pathogenic.
GenomeConnect - Brain Gene Registry RCV000408621 SCV003931231 not provided DYRK1A-related intellectual disability syndrome no assertion provided phenotyping only Variant classified as Pathogenic and reported on 05-03-2019 by Invitae. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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