ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.336G>A (p.Glu112=)

gnomAD frequency: 0.00002  dbSNP: rs146349367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602892 SCV000716727 likely benign not specified 2017-03-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001497191 SCV001701913 likely benign 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962754 SCV004783517 likely benign OPA3-related disorder 2023-01-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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