ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1158dup (p.Glu387Ter)

dbSNP: rs2148627691
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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 RCV001957513 SCV002205030 pathogenic DYRK1A-related intellectual disability syndrome 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu396*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with DYRK1A-related conditions (PMID: 32555303). ClinVar contains an entry for this variant (Variation ID: 1425863). For these reasons, this variant has been classified as Pathogenic.

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