ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro)

dbSNP: rs137853048
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
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767468 SCV000898083 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 66 months old born individual of male sex. The c.1190T>C, p.(Leu397Pro) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Bahi-Buisson et al. J Med Genet, 2008 PMID: 18728072. HPO-standardized clinical features were: Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Dysgenesis of the cerebellar vermis (HP:0002195); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); no Seizures (-HP:0001250); Strabismus (HP:0000486)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000007491 SCV004244615 pathogenic Lissencephaly due to TUBA1A mutation 2023-10-02 criteria provided, single submitter clinical testing PS2, PS3, PS4_Supporting, PM2, PM6, PP2, PP3
OMIM RCV000007491 SCV000027691 pathogenic Lissencephaly due to TUBA1A mutation 2008-10-01 no assertion criteria provided literature only

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.