ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter)

dbSNP: rs2145827917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880954 SCV002142885 pathogenic DiGeorge syndrome 2021-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with TBX1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Cys53*) in the TBX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TBX1 are known to be pathogenic (PMID: 25860641, 29500247).
GenomeConnect - Brain Gene Registry RCV003234130 SCV003931168 not provided Velocardiofacial syndrome; DiGeorge syndrome no assertion provided phenotyping only Variant classified as Pathogenic and reported on 06-30-2021 by Invitae. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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