ClinVar Miner

Submissions for variant NM_130837.2(OPA1):c.740G>A (p.Arg247His) (rs138350727)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657875 SCV000779636 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing The R247H variant in the OPA1 gene has been reported previously in an individual with optic neuropathy. Studies in fibroblasts from this affected individual demonstrated increased susceptibility to apoptosis, abnormal mitochondrial network filamentation, and altered OPA1 protein profile; however, the significance of these findings is unknown (Cornille et al., 2008). The R247H variant is observed in 9/277,158 (0.0032%) alleles in large population cohorts (Lek et al., 2016). The R247H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret R247H as a variant of uncertain significance.
GeneReviews RCV000055988 SCV000087042 pathologic Dominant hereditary optic atrophy 2010-07-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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