ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly)

dbSNP: rs2082811958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino 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, University of Torino RCV001257569 SCV002760103 likely pathogenic Intellectual disability, autosomal dominant 57 2022-11-29 criteria provided, single submitter research

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