ClinVar Miner

Submissions for variant NC_000021.8:g.(?_38792657)_(38884854_?)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 RCV000708541 SCV000837651 pathogenic DYRK1A-related intellectual disability syndrome 2020-04-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). Isolated whole-gene deletions of DYRK1A have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 21204217). A gross deletion of the genomic region encompassing the full coding sequence of the DYRK1A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes.

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