ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val)

dbSNP: rs587784481
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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 RCV000147794 SCV000195265 likely pathogenic Lissencephaly due to TUBA1A mutation 2013-02-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767443 SCV000898058 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.1129A>G, p.(Met377Val) variant has been reported as a variant of germline/unknown origin.

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