ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003471641 SCV004209057 likely pathogenic 3-Methylglutaconic aciduria type 3 2023-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779066 SCV004572193 uncertain significance 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2024-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln105*) in the OPA3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acid(s) of the OPA3 protein. This variant is not present in population databases (gnomAD no frequency). 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: 2677420). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts the C-terminus of the OPA3 protein. Other variant(s) that disrupt this region (p.Gln139*) have been observed in individuals with OPA3-related conditions (PMID: 18985435). This suggests that this may be a clinically significant region of the protein. 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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