ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.619G>A (p.Glu207Lys)

gnomAD frequency: 0.00004  dbSNP: rs569675223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705128 SCV000251977 uncertain significance not provided 2024-07-24 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26867657, 33884488, 31106028, 36246636)
Labcorp Genetics (formerly Invitae), Labcorp RCV001705128 SCV003263316 benign not provided 2023-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737306 SCV005357426 uncertain significance OPA1-related disorder 2024-09-25 no assertion criteria provided clinical testing The OPA1 c.619G>A variant is predicted to result in the amino acid substitution p.Glu207Lys. This variant has been reported in two patients with optic atrophy (Table S2, Wang et al. 2019. PubMed ID: 31106028; Xu et al. 2021. PubMed ID: 33884488) and in a patient with amblyopia along with a potentially causative variant in the LRP5 gene (described as p.Glu189Lys, Chen et al. 2022. PubMed ID: 36246636). This variant is reported in 0.092% of alleles in individuals of East Asian descent in gnomAD. Although we suspect 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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