Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543161 | SCV000651267 | pathogenic | DYRK1A-related intellectual disability syndrome | 2017-06-16 | criteria provided, single submitter | clinical testing | 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 a DYRK1A-related disease. However, a different variant (c.312C>G) giving rise to the same protein effect observed here (p.Tyr104*) has been reported in an individual affected with microcephaly, intellectual disability, speech impairment, and distinct facial features (PMID: 25944381). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr104*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |