ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu) (rs387906840)

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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 RCV000767414 SCV000898029 likely pathogenic Tubulinopathies 2018-07-01 criteria provided, single submitter literature only A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a 7 years old born individual of female sex. The c.13A>C, p.(Ile5Leu) variant has been reported as a variant of germline origin. This variant and associated phenotype was previously reported by Jansen et al. Neurology, 2011 PMID: 21403111. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); no Abnormality of the cerebellar vermis (-HP:0002334); Hypoplasia of the brainstem (HP:0002365); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); Focal seizures (HP:0007359); Strabismus (HP:0000486)
OMIM RCV000023197 SCV000044488 pathogenic Lissencephaly 3 2011-03-15 no assertion criteria provided literature only

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