ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.712A>G (p.Ile238Val) (rs1565627184)

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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 RCV000767430 SCV000898045 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 25 gestational week old fetal individual of male sex. The c.712A>G, p.(Ile238Val) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Fallet-Bianco et al. Brain, 2008 PMID: 18669490. HPO-standardized clinical features were: Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451)

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