ClinVar Miner

Submissions for variant NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) (rs587784505)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147851 SCV000195325 uncertain significance Cortical dysplasia, complex, with other brain malformations 1 2013-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000255388 SCV000321989 pathogenic not provided 2018-04-25 criteria provided, single submitter clinical testing The G98S variant in the TUBB3 gene has been reported previously as a de novo change in a child with congenital fibrosis of the extraocular muscles and structural abnormalities of the brain (Whitman et al., 2015). The G98S variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G98S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G98S as a pathogenic variant.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000147851 SCV000965726 likely pathogenic Cortical dysplasia, complex, with other brain malformations 1 2016-01-01 criteria provided, single submitter clinical testing
GeneReviews RCV000203608 SCV000258985 pathogenic Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 2016-01-14 no assertion criteria provided literature only

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