Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658151 | SCV000779922 | likely pathogenic | not provided | 2018-05-10 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the TUBA1A gene. The A174P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A174P variant is not observed in large population cohorts (Lek et al., 2016). The A174P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. A different missense change at this residue (A174V) has been reported as likely pathogenic in a patient previously tested at GeneDx with global developmental delay and a neuronal migration disorder. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |