ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1978T>C (p.Trp660Arg) (rs1553881180)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518460 SCV000614379 uncertain significance not specified 2016-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000658330 SCV000780102 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing The W660R variant in the OPA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The W660R variant is not observed in large population cohorts (Lek et al., 2016). The W660R 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 W660R as a variant of uncertain significance.

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