ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1425T>A (p.Asn475Lys) (rs863224137)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197417 SCV000251999 uncertain significance not provided 2014-04-28 criteria provided, single submitter clinical testing p.Asn475Lys (AAT>AAA): c.1425 T>A in exon 14 of the OPA1 gene (NM_015560.2). Variant N475K has not been published as a mutation, or reported as benign polymorphism to our knowledge. The variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is a not common benign variant in these populations. The N475K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at positions that is conserved across species. In silico analysis is not consistent in their predictions of the effect of N475K on the OPA1 protein. 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).

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