ClinVar Miner

Submissions for variant NM_006593.4(TBR1):c.1271del (p.Arg424fs)

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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 RCV004795253 SCV005415398 likely pathogenic Autism, susceptibility to, 5 2024-11-27 criteria provided, single submitter clinical testing This variant was detected in a female with autism and developmental dysphasia. The variant was confirmed to be of a de novo origin. Rare missense and truncating variants affecting the TBR1 gene are documented as a molecular cause of autosomal dominant "intellectual developmental disorder with autism and speech delay" (OMIM:606053) (PMID:30268909;30250039;25232744). To conclude, the variant is classified as likely pathogenic (ACMG PVS1, PM2, PS2).

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