ClinVar Miner

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

dbSNP: rs137853043
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000007486 SCV000195291 pathogenic Lissencephaly due to TUBA1A mutation 2014-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622693 SCV000741808 pathogenic Inborn genetic diseases 2016-09-16 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767404 SCV000898019 pathogenic Tubulinopathy 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)
GeneDx RCV001564937 SCV001788183 pathogenic not provided 2021-04-15 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect as alpha tubulin protein harboring R264C has a diminished capacity of de novo tubulin heterodimer formation (Tian et al., 2008); Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 29671837, 28677066, 17584854, 17218254, 18199681, 18669490, 27431206, 18728072)
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV000007486 SCV002577725 pathogenic Lissencephaly due to TUBA1A mutation 2022-10-04 criteria provided, single submitter clinical testing PS4;PM1;PM2_supporting;PM5;PP2;PP3
Molecular Genetics Lab, CHRU Brest RCV000007486 SCV004697781 pathogenic Lissencephaly due to TUBA1A mutation criteria provided, single submitter clinical testing
OMIM RCV000007486 SCV000027686 pathogenic Lissencephaly due to TUBA1A mutation 2008-10-01 no assertion criteria provided literature only
GeneReviews RCV000007486 SCV000266415 not provided Lissencephaly due to TUBA1A mutation no assertion provided literature only Polymicrogyria-like cortical dysplasia
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000007486 SCV001432379 pathogenic Lissencephaly due to TUBA1A mutation no assertion criteria provided clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001291302 SCV001479774 likely pathogenic Lissencephaly no assertion criteria provided research

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