Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
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, |
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 |