ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1094A>G (p.Gln365Arg)

gnomAD frequency: 0.00004  dbSNP: rs770966290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757410 SCV002007581 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in an individual with a suspected diagnosis of hereditary optic neuropathy in published literature, but familial segregation data and additional clinical information were not provided (Ferre et al., 2009); This variant is associated with the following publications: (PMID: 19319978)
Labcorp Genetics (formerly Invitae), Labcorp RCV001757410 SCV002128979 benign not provided 2022-12-27 criteria provided, single submitter clinical testing

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