ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.919C>T (p.Pro307Ser) (rs1555162327)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497595 SCV000589400 likely pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing The P307S variant in the TUBA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P307S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P307S 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. We interpret P307S as a likely pathogenic variant.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767448 SCV000898063 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.919C>T, p.(Pro307Ser) variant has been reported as a variant of germline/unknown origin.

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