ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.49T>A (p.Leu17Ile) (rs760770105)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523840 SCV000621703 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing The L17I variant in the OPA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L17I variant is observed in 2/109150 (0.002%) alleles from individuals of non-Finnish European background, in large population cohorts (Lek et al., 2016). The L17I 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 L17I as a variant of uncertain significance.

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