Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000767412 | SCV000898027 | likely pathogenic | Tubulinopathy | 2018-07-01 | criteria provided, single submitter | literature only | A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a 54 months old born individual of female sex. The c.1341del, p.(Gly448Glufs*36) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by de Ligt et al. N Engl J Med, 2012 HPO-standardized clinical features were: Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321) |