Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000256014 | SCV000322583 | pathogenic | not provided | 2016-06-06 | criteria provided, single submitter | clinical testing | The Y219X pathogenic variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y219X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Y219X as a pathogenic variant. |
Invitae | RCV003640883 | SCV004458481 | pathogenic | DYRK1A-related intellectual disability syndrome | 2023-04-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 265592). For these reasons, this variant has been classified as Pathogenic. 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.Tyr219*) 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). |
Genome |
RCV001265300 | SCV001443417 | pathogenic | Complex neurodevelopmental disorder | 2018-09-17 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-17 and interpreted as Pathogenic. Variant was initially reported on 2016-06-12 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |