Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504134 | SCV000597721 | likely pathogenic | Lissencephaly due to TUBA1A mutation | 2017-03-21 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
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) |