ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)

gnomAD frequency: 0.00116  dbSNP: rs151103940
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731858 SCV000859714 likely benign not specified 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000903690 SCV001048170 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Mendelics RCV000987376 SCV001136659 benign Autosomal dominant optic atrophy classic form 2023-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000903690 SCV001776758 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22707247, 21036400, 18783614, 16617242)
PreventionGenetics, part of Exact Sciences RCV004737986 SCV005364984 uncertain significance OPA1-related disorder 2024-09-17 no assertion criteria provided clinical testing The OPA1 c.239A>G variant is predicted to result in the amino acid substitution p.Tyr80Cys. This variant has been reported in two apparently unrelated patients with optic atrophy (Han et al., 2006. PubMed ID: 16617242; Yu-Wai-Man et al., 2010. PubMed ID: 21036400). However, no conclusive evidence of pathogenicity was provided. In addition, one of these patients harbored another variant of uncertain significance in OPA1 (Han et al. 2006. PubMed ID: 16617242). This variant is reported in 0.39% of alleles in individuals of African descent in gnomAD, which may be too common to be a primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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