ClinVar Miner

Submissions for variant NM_207037.2(TCF12):c.1832G>A (p.Arg611His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004771793 SCV005382548 likely pathogenic TCF12-related craniosynostosis 2024-10-24 criteria provided, single submitter clinical testing This variant was detected in a female proband with combined developmental dysphasia, dyslalia, autistic features, mild intellectual disability, ADHD, abnormal facial shape. This variant was found to be of a de novo origin. De novo missense variations in the bHLH domain are well documented in the pathogenesis of craniosynostosis with variable neurodevelopmental abnormalities (PMID:24736737;25271085;29168297;23354436). To conclude, the variant is classified as likely pathogenic (ACMG PS2, PM2, PP3).

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