ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) (rs137853043)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622693 SCV000741808 pathogenic Inborn genetic diseases 2016-09-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
GeneReviews RCV000007486 SCV000266415 pathogenic Lissencephaly 3 2015-12-04 no assertion criteria provided literature only Polymicrogyria-like cortical dysplasia
Genetic Services Laboratory, University of Chicago RCV000007486 SCV000195291 pathogenic Lissencephaly 3 2014-07-07 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767404 SCV000898019 pathogenic Tubulinopathies 2018-07-01 criteria provided, single submitter literature only A variant that is classified as pathogenic has been identified in the TUBA1A gene in a 2 years old born individual of male sex. The c.790C>T, p.(Arg264Cys) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Keays et al. Cell, 2007 PMID: 17218254. HPO-standardized clinical features were: Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); no Seizures (-HP:0001250)
OMIM RCV000007486 SCV000027686 pathogenic Lissencephaly 3 2008-10-01 no assertion criteria provided literature only

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