ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.640C>T (p.Arg214Cys)

dbSNP: rs886044568
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 RCV001546387 SCV001765893 pathogenic not provided 2024-09-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25059107, 24860126, 26130693, 33726816)
PreventionGenetics, part of Exact Sciences RCV003908893 SCV004722963 uncertain significance TUBA1A-related disorder 2024-01-02 no assertion criteria provided clinical testing The TUBA1A c.640C>T variant is predicted to result in the amino acid substitution p.Arg214Cys. This variant has been reported de novo in an individual with an unknown phenotype in a large whole genome sequencing cohort (Table S7, Stranneheim et al 2021. PubMed ID: 33726816). This variant has not been reported in a large population database, indicating this variant is rare. A different missense variant at the same amino acid (p.Arg214His) has been reported de novo in multiple individuals with TUBA1A-related tubulinopathies (Bahi-Buisson et al. 2014. PubMed ID: 24860126; Hebebrand et al. 2019. PubMed ID: 30744660) and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/372542/). Although we suspect that the p.Arg214Cys variant may be pathogenic, the clinical significance of this variant is uncertain at this time due to the absence of conclusive functional and genetic evidence.

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.