ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1535T>C (p.Ile512Thr) (rs148834015)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658247 SCV000780018 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing The I512T variant in the OPA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The I512T variant is observed in 19/276,746 (0.0069%) global alleles in large population cohorts (Lek et al., 2016). The I512T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret I512T as a variant of uncertain significance.

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