ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter) (rs753719501)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000191138 SCV000245547 pathogenic Lissencephaly 3 2013-06-10 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in a 20-year-old male with bilateral perisylvian polymicrogyria, epilepsy, abnormal gait, global delays
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767436 SCV000898051 uncertain significance Tubulinopathies 2018-07-01 criteria provided, single submitter literature only A variant that is classified as VUS has been identified in the TUBA1A gene in a born individual of unknown sex. The c.1224C>A, p.(Tyr408*) variant has been reported as a variant of germline/unknown origin. This variant and associated phenotype was previously reported by Posey et al. Genet Med, 2016

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