ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) (rs1064796460)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000578289 SCV000745684 pathogenic Lissencephaly 3 2015-05-01 no assertion criteria provided clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767476 SCV000898091 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 3 years old born individual of female sex. The c.1169G>A, p.(Arg390His) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Zanni et al. Eur J Pediatr Neurol, 2013 PMID: 23317684. HPO-standardized clinical features were: Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Spasticity (HP:0001257); Strabismus (HP:0000486)
Institute of Human Genetics,Klinikum rechts der Isar RCV000578289 SCV000680418 pathogenic Lissencephaly 3 2017-11-16 criteria provided, single submitter clinical testing

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