ClinVar Miner

Submissions for variant NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) (rs869312704)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209932 SCV000265591 likely pathogenic not provided 2015-10-10 criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000627109 SCV000747913 likely pathogenic Autistic behavior; Severe global developmental delay 2014-09-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000627110 SCV000747914 likely pathogenic Autistic behavior; Moderate global developmental delay 2017-03-16 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000627111 SCV000747915 likely pathogenic Severe global developmental delay 2017-10-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000209932 SCV000780678 likely pathogenic not provided 2017-12-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824817 SCV000965704 likely pathogenic Autistic behavior 2014-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Klinikum rechts der Isar RCV000735645 SCV001149955 pathogenic Autism 5 2019-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000209932 SCV001168584 pathogenic not provided 2019-09-28 criteria provided, single submitter clinical testing The c.1588_1594dupGGCTGCA variant in the TBR1 gene has previously been reported as a de novo change in multiple unrelated individuals with severe intellectual disability (Gilissen et al., 2014; Vegas et al., 2018; Thevenon et al., 216; Bowling et al., 2017). This duplication causes a frameshift starting with codon Threonine 532, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 144 of the new reading frame, denoted p.Thr532ArgfsX144. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1588_1594dupGGCTGCA variant is not observed in large population cohorts (Lek et al., 2016). Based on currently available evidence, we interpret c.1588_1594dupGGCTGCA as a pathogenic variant.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001200907 SCV001371828 likely pathogenic Autistic behavior; Delayed fine motor development; Severe global developmental delay; Abnormal brainstem MRI signal intensity 2019-01-12 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001200914 SCV001371835 likely pathogenic Gait ataxia; Hypoplasia of the frontal lobes; Delayed fine motor development; Severe global developmental delay 2018-02-02 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001200915 SCV001371836 likely pathogenic Seizures; Gait ataxia; Delayed fine motor development; Severe global developmental delay; Focal cortical dysplasia 2018-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266838 SCV001445018 likely pathogenic Inborn genetic diseases 2018-06-05 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000505228 SCV000599285 likely pathogenic Neurodevelopmental disorder 2016-02-09 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000509230 SCV000606954 not provided Intellectual disability no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000735645 SCV000863782 pathogenic Autism 5 2018-12-19 no assertion criteria provided literature only

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