ClinVar Miner

Submissions for variant NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser)

dbSNP: rs1131691895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493980 SCV000583092 pathogenic not provided 2023-07-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 20829227, 26582918)
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002056825 SCV002320772 likely pathogenic Complex cortical dysplasia with other brain malformations 1 2022-01-01 criteria provided, single submitter clinical testing
GenomeConnect - Brain Gene Registry RCV002264946 SCV002547308 not provided Congenital fibrosis of extraocular muscles; Brain malformation no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 05-10-2018 by lab or GTR ID 26957. 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 John Constantino MD PhD 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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