ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) (rs137853044)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000007487 SCV000266413 pathogenic Lissencephaly 3 2015-12-04 no assertion criteria provided literature only Classic lissencephaly
Genetic Services Laboratory, University of Chicago RCV000007487 SCV000195270 pathogenic Lissencephaly 3 2013-06-21 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767403 SCV000898018 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 2 years old born individual of male sex. The c.1205G>A, p.(Arg402His) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Keays et al. Cell, 2007 PMID: 17218254. HPO-standardized clinical features were: Partial agenesis of the corpus callosum (HP:0001338); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069)
OMIM RCV000007487 SCV000027687 pathogenic Lissencephaly 3 2010-09-15 no assertion criteria provided literature only

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