Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV001257569 | SCV001433610 | pathogenic | Intellectual disability, autosomal dominant 57 | 2020-09-24 | criteria provided, single submitter | research | The Asp551Gly in TLK2 has been identified in proband with intellectual disability and autism spectrum disorder. The variant was de novo. The variant shows an altered cellular localization, altered kinase activity, impaired protein interactome and chromatin relaxation. |
Laboratory of Medical Genetics, |
RCV001257569 | SCV002760103 | likely pathogenic | Intellectual disability, autosomal dominant 57 | 2022-11-29 | criteria provided, single submitter | research |