ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) (rs1064795213)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482824 SCV000570818 pathogenic not provided 2017-07-20 criteria provided, single submitter clinical testing The N18S variant in the TUBA1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, this variant has been previously observed as a de novo finding in an individual tested at GeneDx with features of a TUBA1A-related disorder. The N18S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, 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. We interpret N18S as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000501252 SCV000597719 uncertain significance not specified 2015-09-18 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767453 SCV000898068 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.53A>G, p.(Asn18Ser) variant has been reported as a variant of germline/unknown origin.

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