ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.455T>A (p.Leu152Gln) (rs1057521063)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445112 SCV000520891 likely pathogenic not provided 2016-10-12 criteria provided, single submitter clinical testing A published L152Q variant that is likely pathogenic has been identified in the TUBA1A gene. The L152Q variant has been reported previously as a de novo change in an individual with cerebellum and corpus callosum anomalies, periventricular leukomalacia, and diplegia (McMichael et al., 2015). It was not observed in approximately 6,500 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 L152Q 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767509 SCV000898124 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.455T>A, p.(Leu152Gln) variant has been reported as a variant of germline/unknown origin.

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