ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) (rs587784491)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190671 SCV000244111 pathogenic Inborn genetic diseases 2013-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000494655 SCV000582422 likely pathogenic not provided 2015-10-03 criteria provided, single submitter clinical testing The R2H variant in the TUBA1A gene has been published as a de novo variant in an individual reported with a clinical diagnosis of lissencephaly 3 (Farwell et al., 2015). The R2H 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 R2H variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The R2H variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Genetic Services Laboratory, University of Chicago RCV000147815 SCV000195288 likely pathogenic Lissencephaly 3 2013-10-09 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767455 SCV000898070 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.5G>A, p.(Arg2His) variant has been reported as a variant of germline/unknown origin.

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