ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.2471G>A (p.Arg824Gln) (rs200412464)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487683 SCV000251980 uncertain significance not provided 2018-11-29 criteria provided, single submitter clinical testing The R824Q variant in the OPA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R824Q variant is observed in 8/111480 (0.0072%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). The R824Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R824Q as a variant of uncertain significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487683 SCV000575386 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000487683 SCV000802499 uncertain significance not provided 2016-03-08 no assertion criteria provided clinical testing

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