ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.599G>A (p.Cys200Tyr) (rs1565627260)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767477 SCV000898092 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 8 years old born individual of female sex. The c.599G>A, p.(Cys200Tyr) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Hikita et al. Brain Dev, 2014 PMID: 23528852. HPO-standardized clinical features were: Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); no Gray matter heterotopia (-HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.