ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.2862A>C (p.Glu954Asp) (rs189036094)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726784 SCV000251983 uncertain significance not provided 2018-07-27 criteria provided, single submitter clinical testing The E954D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E954D variant is observed in 5/225,034 (0.002%) alleles in the ExAC dataset (Lek et al., 2016). The E954D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726784 SCV000702997 uncertain significance not provided 2016-10-27 criteria provided, single submitter clinical testing

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