ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.2720A>G (p.Glu907Gly) (rs863224138)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197741 SCV000252005 uncertain significance not provided 2013-12-04 criteria provided, single submitter clinical testing p.Glu907Gly (GAG>GGG): c.2720 A>G in exon 27 of the OPA1 gene (NM_015560.2). The E907G missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative as a large, negatively charged Glutamic Acid residue is replaced by a small, uncharged Glycine residue. This change occurs at a position in the OPA1 protein that is conserved in mammals. In-silico analyses are not consistent in their predictions of whether or not E907G is damaging to the OPA1 protein. Therefore, based on the currently available information, it is unclear whether E907G is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).

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