ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1259_1260dup (p.Glu421fs)

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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 RCV002810940 SCV003205192 pathogenic DYRK1A-related intellectual disability syndrome 2023-07-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2001129). This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu430Trpfs*22) 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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