ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro) (rs1553877946)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497888 SCV000589881 likely pathogenic not provided 2016-06-10 criteria provided, single submitter clinical testing The L434P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L434P variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L434P 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 a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (N430D, I432V, C435Y, Q437R, D438G/A/V, G439V) have been reported in the Human Gene Mutation Database in association with optic atrophy 1, multiple mitochondrial DNA deletion disorder, optic atrophy with deafness, and optic atrophy with deafness and ataxia (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000497888 SCV000702813 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing

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