ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu)

dbSNP: rs137853044
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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 RCV000147799 SCV000195271 pathogenic Lissencephaly due to TUBA1A mutation 2014-01-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767409 SCV000898024 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 45 months old born individual of male sex. The c.1205G>T, p.(Arg402Leu) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Morris-Rosendahl et al. Clin Genet, 2008 PMID: 18954413. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Focal seizures (HP:0007359)

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