ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg) (rs863225277)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000274390 SCV000329706 pathogenic not provided 2016-01-07 criteria provided, single submitter clinical testing The Q437R pathogenic variant in the OPA1 gene has been reported previously in an individual with optic atrophy, hearing loss, nystagmus, ataxia and paraesthesia (Leruez et al., 2013). The Q437R variant was not observed in approximately 6,500 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 Q437R 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 (I434R, C435Y, D438V, D438G, D438A, G439V) have been reported in the Human Gene Mutation Database in association with optic atrophy (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret Q437R as a pathogenic variant.
GeneReviews RCV000201926 SCV000256800 pathogenic Dominant hereditary optic atrophy 2015-11-12 no assertion criteria provided literature only

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