ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.961A>G (p.Met321Val) (rs863224132)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198713 SCV000251991 likely pathogenic not provided 2014-07-17 criteria provided, single submitter clinical testing p.Met321Val (ATG>GTG): c.961 A>G in exon 9 of the OPA1 gene (NM_015560.2). The M321V variant that is likely pathogenic was identified in the OPA1 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The M321V 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 M321V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar 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 mutations in nearby residues (I313K, T330S and L331P) have been reported in association with optic atrophy, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).

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