ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1880G>A (p.Arg627Lys) (rs772040791)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484249 SCV000568139 uncertain significance not provided 2017-03-02 criteria provided, single submitter clinical testing The R627K variant in the OPA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R627K variant is observed in 1/16,328 (0.006%) alleles from individuals of South Asian background and 2/65,580 (0.003%) alleles from individuals of European (non-Finnish) background in the ExAC dataset (Lek et al., 2016). The R627K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R627K as a variant of uncertain significance.

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