ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1932_1938del (p.His644fs)

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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 RCV005120602 SCV005742078 pathogenic DYRK1A-related intellectual disability syndrome 2024-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His653Glnfs*48) in the DYRK1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the DYRK1A protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. This variant disrupts a region of the DYRK1A protein in which other variant(s) (p.Gln681Argfs*22) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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