ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.79G>C (p.Glu27Gln) (rs1057521064)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425962 SCV000520892 pathogenic not provided 2017-01-19 criteria provided, single submitter clinical testing The E27Q variant in the TUBA1A gene has been reported previously as de novo in an individual with microcephaly, severe developmental delay, and brain hypoplasia with diffuse pachygyria and lateral ventricle dilation on brain MRI (Shimojima et al., 2014). The E27Q variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E27Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In addition, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E27Q as a pathogenic variant.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767421 SCV000898036 pathogenic Tubulinopathies 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 1 week old born individual of female sex. The c.79G>C, p.(Glu27Gln) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Shimojima et al. BMC Res Notes, 2014 PMID: 25053001. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252)

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