ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)

dbSNP: rs372161100
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242449 SCV001415539 uncertain significance 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 137 of the OPA3 protein (p.Gln137Pro). This variant is present in population databases (rs372161100, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with OPA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 967515). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV003130220 SCV003814270 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003130220 SCV005408868 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing PM2_moderate
Natera, Inc. RCV001835128 SCV002088918 uncertain significance 3-Methylglutaconic aciduria type 3 2020-06-12 no assertion criteria provided clinical testing

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