ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp)

dbSNP: rs587784488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147810 SCV000195283 pathogenic Lissencephaly due to TUBA1A mutation 2014-05-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767508 SCV000898123 likely pathogenic Tubulinopathy 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.481T>G, p.(Tyr161Asp) variant has been reported as a variant of germline/unknown origin.

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