Submissions for variant NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) (rs886039513)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000256088	SCV000322208	pathogenic	not provided	2018-11-02	criteria provided, single submitter	clinical testing	The R123C variant in the TUBA1A gene has been reported previously as de novo variant in an individual with central polymicrogyria-like cortical dysplasia (Bahi-Buisson et al., 2014). Subsequently, the R123C variant was reported as a de novo variant in an individual with abnormal brain imaging, diplegic cerebral palsy, optic atrophy, seizures, and intellectual disability (McMichael et al., 2015). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R123C variant is a non-conservative amino acid substitution and occurs at a position that is conserved across species.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg	RCV000767482	SCV000898097	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 3 years old born individual of female sex. The c.367C>T, p.(Arg123Cys) 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: no Abnormal corpus callosum morphology (-HP:0001273); Polymicrogyria (HP:0002126); Dysgenesis of the cerebellar vermis (HP:0002195); Microcephaly (HP:0000252)