ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.520G>C (p.Ala174Pro) (rs1555162392)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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