ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) (rs587784494)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147818 SCV000195292 likely pathogenic Lissencephaly 3 2014-03-10 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767426 SCV000898041 pathogenic Tubulinopathies 2018-07-01 criteria provided, single submitter literature only A variant that is classified as pathogenic has been identified in the TUBA1A gene in a 19 months old born individual of male sex. The c.808G>T, p.(Ala270Ser) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Myers et al. Pediatric Neurology, 2015 PMID: 26294046. HPO-standardized clinical features were: Agenesis of the corpus callosum (HP:0001274); Cortical gyral simplification (HP:0009879); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069); Optic nerve hypoplasia (HP:0000609)

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