Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147821 | SCV000195295 | pathogenic | Lissencephaly due to TUBA1A mutation | 2016-10-14 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000767474 | SCV000898089 | 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 born individual of unknown sex. The c.986A>G, p.(Asn329Ser) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Kumar et al. Hum Mol Genet, 2010 PMID: 20466733. HPO-standardized clinical features were: Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252) |
Baylor Genetics | RCV000147821 | SCV003836339 | pathogenic | Lissencephaly due to TUBA1A mutation | 2022-03-29 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000147821 | SCV001469276 | pathogenic | Lissencephaly due to TUBA1A mutation | 2020-08-07 | no assertion criteria provided | clinical testing |