ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.880G>T (p.Val294Phe) (rs863224131)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196148 SCV000251990 likely pathogenic not provided 2014-03-21 criteria provided, single submitter clinical testing The V294F variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant was not observed in approximately 6500 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 V294F 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 highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (R290W, R290Q, A299P) have been reported in association with optic atrophy 1, supporting the functional importance of this region of the protein. Furthermore, an in-frame deletion that includes the loss of Valine 294 (p.V293_V294del) has also been reported in association with optic atrophy 1 (Ferre et al., 2009). Therefore, V294F was interpreted to be a strong candidate for a disease-causing mutation. The variant is found in OAPEO-MITOP panel(s).

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