ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu) (rs137853045)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767405 SCV000898020 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 1 month old born individual of female sex. The c.562A>C, p.(Ile188Leu) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Poirier et al. Hum Mutat, 2007 PMID: 17584854. HPO-standardized clinical features were: Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)
OMIM RCV000007488 SCV000027688 pathogenic Lissencephaly 3 2010-09-15 no assertion criteria provided literature only

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