ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) (rs121908375)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790668 SCV000232749 pathogenic not provided 2016-01-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336297 SCV001529646 likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 2018-07-18 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing in multiple affected families [PMID 11017080, 22779427, 25564500, 21745197] Clinical variability has been previously reported and may be due to incomplete penetrance; some carriers can be unaffected [PMID 17724190, 12488262]
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000790668 SCV001762175 likely pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
OMIM RCV000005389 SCV000025569 pathogenic Autosomal dominant optic atrophy classic form 2000-10-01 no assertion criteria provided literature only
GeneDx RCV000790668 SCV001787297 pathogenic not provided 2020-09-29 no assertion criteria provided clinical testing Functional studies support a deleterious effect on mitochondrial morphology and cellular reactive oxygen species level (Zhang et al., 2016; Olichon et al., 2007); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 33300680, 27858935, 30293569, 22779427, 21745197, 23916084, 25564500, 11017080, 17167772, 26867657, 32025183)

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