ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.381C>A (p.Asp127Glu) (rs1565627390)

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Total submissions: 1
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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 RCV000767521 SCV000898136 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 10 months old born individual of female sex. The c.381C>A, p.(Asp127Glu) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Sato et al Brain Dev, 2018 PMID: 29907476. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Brainstem dysplasia (HP:0002508); Cerebellar hypoplasia (HP:0001321); Abnormality of the internal capsule (HP:0012502); no Microcephaly (-HP:0000252); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069); Strabismus (HP:0000486)

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