ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.320A>G (p.His107Arg)

dbSNP: rs1565627517
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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, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767489 SCV000898104 pathogenic Tubulinopathy 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 9 years old born individual of female sex. The c.320A>G, p.(His107Arg) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Mencarelli et al. J. Mol. Sci, 2017 PMID: 29109381. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); Cortical gyral simplification (HP:0009879); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069)

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