ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.2564T>G (p.Leu855Arg) (rs139106405)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000729362 SCV000252002 uncertain significance not provided 2014-04-22 criteria provided, single submitter clinical testing p.Asp351Gly (GAT>GGT): c.1052 A>G in exon 9 of the PDHX gene (NM_003477.2) The D351G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D315G 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. 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. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729362 SCV000857017 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing

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