ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1307G>A (p.Gly436Asp) (rs1565626851)

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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 RCV000767491 SCV000898106 pathogenic Tubulinopathies 2018-07-01 criteria provided, single submitter clinical testing A variant that is classified as pathogenic has been identified in the TUBA1A gene in a born individual of male sex. The c.1307G>A, p.(Gly436Asp) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Hebebrand et al. Orphanet J. Rare. Dis., 2019 PMID: 30744660. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); Other (NA); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Muscular hypotonia (HP:0001252); no Seizures (-HP:0001250)

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