ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)

gnomAD frequency: 0.00001  dbSNP: rs780492515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672143 SCV000797214 uncertain significance 3-Methylglutaconic aciduria type 3 2018-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532121 SCV003443344 uncertain significance 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 163 of the OPA3 protein (p.Leu163Phe). This variant is present in population databases (rs780492515, 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: 556177). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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