Submissions for variant NM_178012.5(TUBB2B):c.33G>C (p.Gln11His)

dbSNP: rs1135401758

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000519098	SCV000618131	likely pathogenic	not provided	2016-06-08	criteria provided, single submitter	clinical testing	The Q11H variant in the TUBB2B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q11H variant 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 Q11H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The Q11H variant is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV000496148	SCV000586693	likely pathogenic	Complex cortical dysplasia with other brain malformations 7	2017-01-01	no assertion criteria provided	clinical testing	This variant has not been reported in both 1000 Genomes and ExAC databases. The in silico prediction of the variant are probably damaging by PolyPhen-2 and damaging by SIFT and MutationTaster2.