ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.930C>A (p.Tyr310Ter)

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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 RCV002601874 SCV002953849 pathogenic DYRK1A-related intellectual disability syndrome 2022-06-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.930C>A, p.Tyr310* . This premature translational stop signal has been observed in individual(s) with clinical features of DYRK1A-related conditions (PMID: 31803247). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr319*) 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).

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