ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.313C>A (p.Gln105Lys)

dbSNP: rs80356525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001935964 SCV002194979 uncertain significance 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2022-10-24 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Gln105 amino acid residue in OPA3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15342707, 24136862, 25159689). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 105 of the OPA3 protein (p.Gln105Lys). 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: 1416933). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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