Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000007486 | SCV000195291 | pathogenic | Lissencephaly due to TUBA1A mutation | 2014-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000622693 | SCV000741808 | pathogenic | Inborn genetic diseases | 2016-09-16 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000767404 | SCV000898019 | 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 2 years old born individual of male sex. The c.790C>T, p.(Arg264Cys) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Keays et al. Cell, 2007 PMID: 17218254. HPO-standardized clinical features were: Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); no Seizures (-HP:0001250) |
Gene |
RCV001564937 | SCV001788183 | pathogenic | not provided | 2021-04-15 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect as alpha tubulin protein harboring R264C has a diminished capacity of de novo tubulin heterodimer formation (Tian et al., 2008); Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 29671837, 28677066, 17584854, 17218254, 18199681, 18669490, 27431206, 18728072) |
Genetics Laboratory, |
RCV000007486 | SCV002577725 | pathogenic | Lissencephaly due to TUBA1A mutation | 2022-10-04 | criteria provided, single submitter | clinical testing | PS4;PM1;PM2_supporting;PM5;PP2;PP3 |
Molecular Genetics Lab, |
RCV000007486 | SCV004697781 | pathogenic | Lissencephaly due to TUBA1A mutation | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000007486 | SCV000027686 | pathogenic | Lissencephaly due to TUBA1A mutation | 2008-10-01 | no assertion criteria provided | literature only | |
Gene |
RCV000007486 | SCV000266415 | not provided | Lissencephaly due to TUBA1A mutation | no assertion provided | literature only | Polymicrogyria-like cortical dysplasia | |
Service de Génétique Moléculaire, |
RCV000007486 | SCV001432379 | pathogenic | Lissencephaly due to TUBA1A mutation | no assertion criteria provided | clinical testing | ||
University of Washington Center for Mendelian Genomics, |
RCV001291302 | SCV001479774 | likely pathogenic | Lissencephaly | no assertion criteria provided | research |