ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2287del (p.Ser763fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249637 SCV001423604 pathogenic Abortive cerebellar ataxia; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Dominant hereditary optic atrophy 2017-09-20 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PM2] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is absent from or rarely observed in large-scale population databases [PM2].

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