ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1025A>C (p.Gln342Pro) (rs1555162307)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521383 SCV000616908 likely pathogenic not provided 2017-06-08 criteria provided, single submitter clinical testing The de novo Q342P variant in the TUBA1A gene has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. The Q342P variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant databasea, indicating it is not a common benign variant in these populations. The Q342P 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 well-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. A missense variant in a nearby residue (A333V) has been reported in the Human Gene Mutation Database in association with polymicrogyria-like disease (Stenson et al., 2014), supporting the functional importance of this region of the protein. The Q342P variant is a strong candidate for a pathogenic variant. However, the possibility that it may be a rare benign variant cannot be excluded.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767457 SCV000898072 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.1025A>C, p.(Gln342Pro) variant has been reported as a variant of germline/unknown origin.

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