ClinVar Miner

Submissions for variant NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) (rs1554122947)

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
GeneDx RCV000657969 SCV000779740 pathogenic not provided 2018-05-14 criteria provided, single submitter clinical testing A pathogenic variant in the TUBB2A gene has been identified. Functional studies show that the P243L variant causes shortening of neurites and that the P243 residue plays a role in the intradimer interaction of the tubulin proteins (Zheng et al., 2017). The P243L variant is not observed in large population cohorts (Lek et al., 2016). It is a semi-conservative amino acid substitution that occurs at a position that is conserved across species. Additionally, missense variants in nearby residues (F242L, G244A, N247K, A248V) have been reported in the Human Gene Mutation Database and/or observed at GeneDx in individuals with features associated with TUBB2A-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P243L as a pathogenic variant.
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000657969 SCV000920517 likely pathogenic not provided 2018-08-08 criteria provided, single submitter 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.