ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter)

dbSNP: rs1555987107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268839 SCV001448044 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001380647 SCV001578775 pathogenic DYRK1A-related intellectual disability syndrome 2020-02-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln387*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DYRK1A-related conditions. 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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