ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) (rs1555162456)

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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 RCV000504134 SCV000597721 likely pathogenic Lissencephaly 3 2017-03-21 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767487 SCV000898102 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 52 years old born individual of male sex. The c.368G>A, p.(Arg123His) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Romaniello et al. Eur Radiol, 2017 PMID: 28677066. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); Brainstem dysplasia (HP:0002508); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); normal (NA); Infantile spasms (HP:0012469)

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