ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val)

dbSNP: rs587784482
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147795 SCV000195266 likely pathogenic Lissencephaly due to TUBA1A mutation 2013-02-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767441 SCV000898056 pathogenic Tubulinopathy 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 born individual of unknown sex. The c.1148C>T, p.(Ala383Val) variant has been reported as a variant of germline/unknown origin.
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201372 SCV000239930 pathogenic Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing

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.