Submissions for variant NM_006009.4(TUBA1A):c.919C>T (p.Pro307Ser)

dbSNP: rs1555162327

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000497595	SCV000589400	likely pathogenic	not provided	2017-06-12	criteria provided, single submitter	clinical testing	The P307S variant in the TUBA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P307S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P307S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other 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. We interpret P307S as a likely pathogenic variant.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	RCV000767448	SCV000898063	likely pathogenic	Tubulinopathy	2018-07-01	criteria provided, single submitter	literature only	A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.919C>T, p.(Pro307Ser) variant has been reported as a variant of germline/unknown origin.