ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1016C>T (p.Thr339Met)

gnomAD frequency: 0.00004  dbSNP: rs141326740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712469 SCV000842969 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332089 SCV001524292 uncertain significance Autosomal dominant optic atrophy classic form 2020-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000712469 SCV001778676 uncertain significance not provided 2024-04-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 11440988)
Labcorp Genetics (formerly Invitae), Labcorp RCV000712469 SCV002151572 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 284 of the OPA1 protein (p.Thr284Met). This variant is present in population databases (rs141326740, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with OPA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 586200). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt OPA1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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