ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu) (rs1057517843)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767506 SCV000898121 likely pathogenic Tubulinopathies 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.

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