Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191138 | SCV000245547 | pathogenic | Lissencephaly due to TUBA1A mutation | 2013-06-10 | criteria provided, single submitter | clinical testing | This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in a 20-year-old male with bilateral perisylvian polymicrogyria, epilepsy, abnormal gait, global delays |
Institute of Human Genetics, |
RCV000767436 | SCV000898051 | uncertain significance | Tubulinopathy | 2018-07-01 | criteria provided, single submitter | literature only | A variant that is classified as VUS has been identified in the TUBA1A gene in a born individual of unknown sex. The c.1224C>A, p.(Tyr408*) variant has been reported as a variant of germline/unknown origin. This variant and associated phenotype was previously reported by Posey et al. Genet Med, 2016 |