Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497556 | SCV000590462 | pathogenic | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | The R214L variant in the TUBA1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a missense variant at the same codon, R214H, has been reported as a de novo variant in an individual with central polymicrogyria-like cortical dysplasia and complete agenesis of the corpus callosum (Bahi-Buisson et al., 2014). The R214L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R214L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R214L as a pathogenic variant. |
Institute of Human Genetics, |
RCV000767506 | SCV000898121 | 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 born individual of unknown sex. The c.641G>T, p.(Arg214Leu) variant has been reported as a variant of germline/unknown origin. |