ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.368G>A (p.Arg123His)

dbSNP: rs1555162456
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504134 SCV000597721 likely pathogenic Lissencephaly due to TUBA1A mutation 2017-03-21 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767487 SCV000898102 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 52 years old born individual of male sex. The c.368G>A, p.(Arg123His) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Romaniello et al. Eur Radiol, 2017 PMID: 28677066. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); Brainstem dysplasia (HP:0002508); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); normal (NA); Infantile spasms (HP:0012469)

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.