ClinVar Miner

Submissions for variant NM_130836.3(OPA1):c.556+1G>A (rs1577162868)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853262 SCV000996089 pathogenic Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 2017-12-13 criteria provided, single submitter clinical testing This canonical splice donor variant is predicted to alter the function of the protein. This variant is absent from population databases, thus it is presumed to be rare. The genomic position is highly conserved and in silico splicing algorithms predict the variant alters splicing mechanisms. Although this variant has not been previously reported in the literature to our knowledge, a similar pathogenic splice site variant located adjacent (c.556+2T>G) has been previously reported and splice site variants are well established as disease causing in the OPA1 gene (PMID: 26867657). Based on the combined evidence, the c.556+1G>A variant is classified as pathogenic.

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