Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000823165 | SCV000964014 | pathogenic | DYRK1A-related intellectual disability syndrome | 2018-10-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu366*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). This variant has not been reported in the literature in individuals with DYRK1A-related disease. |
Gene |
RCV003128715 | SCV003805895 | pathogenic | not provided | 2022-03-22 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |