ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.887T>C (p.Phe296Ser) (rs1131691597)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493300 SCV000582449 likely pathogenic not provided 2016-06-07 criteria provided, single submitter clinical testing The F296S variant in the TUBA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The F296S 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 F296S variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (L286F and V303G) have been reported in the Human Gene Mutation Database in association with lissencephaly (Stenson et al., 2014), supporting the functional importance of this region of the protein. The F296S variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767449 SCV000898064 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.887T>C, p.(Phe296Ser) variant has been reported as a variant of germline/unknown origin.

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