ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1325A>C (p.Asp442Ala) (rs1064795743)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484153 SCV000571849 likely pathogenic not provided 2016-10-17 criteria provided, single submitter clinical testing A novel D442A variant that is likely pathogenic was identified in the OPA1 gene. It has not been published as apathogenic variant, nor has it been reported as a benign variant to our knowledge. The D442A variant was notobserved in approximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. The D442A variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differin polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved acrossspecies, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missensevariants in nearby residues (Q437R, G439V, R445H) have been reported in the Human Gene Mutation Database inassociation with OPA1-related disorders (Stenson et al., 2014), supporting the functional importance of this region ofthe protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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