ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.978A>C (p.Lys326Asn) (rs1565627058)

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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 RCV000767433 SCV000898048 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 23 gestational week old fetal individual of male sex. The c.978A>C, p.(Lys326Asn) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Bahi-Buisson et al. Brain, 2014 PMID: 24860126. 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 dysplasia (HP:0007033); no Abnormal morphology of the hippocampus (HP:0025100); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)

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