ClinVar Miner

Submissions for variant NC_000021.8:g.(?_38859534)_(38868543_?)del

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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 RCV004579330 SCV005068081 pathogenic DYRK1A-related intellectual disability syndrome 2023-12-21 criteria provided, single submitter clinical testing This variant results in the deletion of exons 6-7 and part of exon 8 (c.664+618_1222del) of the DYRK1A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). 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.His285) 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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