ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.450C>G (p.Tyr150Ter)

dbSNP: rs1049773
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061288 SCV001226026 pathogenic DYRK1A-related intellectual disability syndrome 2020-03-23 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 been observed in an individual affected with multiple congenital anomalies (PMID: 26633542). Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). For these reasons, this variant has been classified as Pathogenic.

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