ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1187T>A (p.Leu396His) (rs727504060)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200712 SCV000251995 pathogenic not provided 2012-05-29 criteria provided, single submitter clinical testing p.Leu396His (CTT>CAT): c.1187 T>A in exon 12 of the OPA1 gene (NM_015560.2) The L396H missense change was identified in the OPA1 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. However, other missense mutations at the same position (L396R, L396P) have been reported previously in association with hereditary optic atrophy (Thiselton et al., 2002; Ferre et al., 2009). Furthermore, Leucine 396 is a highly conserved residue in the OPA1 protein that is close to a GTP-binding motif in the dynamin-related domain (Thiselton et al., 2002). Therefore, we interpret L396H to be a disease-associated mutation. The variant is found in OAPEO-MITOP panel(s).

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