ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.623C>T (p.Ser208Leu)

dbSNP: rs1936759742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591697 SCV001815731 uncertain significance not provided 2020-11-04 criteria provided, single submitter clinical testing The c.596C>T (p.Ser199Leu) variant identified in the TBX1 gene substitutes a very well conserved Serine for Leucine at amino acid 199/496 (exon 5/9). This variant is absent from gnomAD(v3.0) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Damaging (SIFT; score:0.00) and Pathogenic (REVEL; score:0.892) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Ser199 residue is within the T-Box DNA Binding domain of TBX1 (UniProtKB: O43435). Given the lack of compelling evidence for its pathogenicity, the inherited c.596C>T (p.Ser199Leu) variant identified in the TBX1 gene is reported as a Variant of Uncertain Significance.
GenomeConnect - Brain Gene Registry RCV003234086 SCV003931159 not provided Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 12-11-2020 by Sema4. 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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