ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) (rs587784482)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488967 SCV000577845 likely pathogenic not provided 2017-09-22 criteria provided, single submitter clinical testing The A383D variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. 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 A383D 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 conserved position and missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with TUBA1A-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, GeneDx interprets A383D as a variant, likely pathogenic
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767440 SCV000898055 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 born individual of unknown sex. The c.1148C>A, p.(Ala383Asp) variant has been reported as a variant of germline/unknown origin.

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