ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu) (rs137853047)

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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 RCV000767406 SCV000898021 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.1256C>T, p.(Ser419Leu) 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: Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormality of brainstem morphology (-HP:0002363); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069)
OMIM RCV000007490 SCV000027690 pathogenic Lissencephaly 3 2010-09-15 no assertion criteria provided literature only

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