ClinVar Miner

Submissions for variant NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)

dbSNP: rs587784506
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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 RCV000147856 SCV000195330 uncertain significance Complex cortical dysplasia with other brain malformations 1 2014-04-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764099 SCV000895063 uncertain significance Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; Complex cortical dysplasia with other brain malformations 1 2018-10-31 criteria provided, single submitter clinical testing
Genetics Institute, Tel Aviv Sourasky Medical Center RCV000147856 SCV001593198 likely pathogenic Complex cortical dysplasia with other brain malformations 1 2021-05-12 criteria provided, single submitter clinical testing
GeneDx RCV001550956 SCV001771366 pathogenic not provided 2021-11-05 criteria provided, single submitter clinical testing Observed previously in a deceased fetus with a complex brain malformation and dysmorphic features and was inherited from a mother with abnormal brain imaging (Reches et al., 2018); Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32169460, 30108342, 20829227)

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