ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.428C>T (p.Ala143Val)

gnomAD frequency: 0.00006  dbSNP: rs553598004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301128 SCV001490290 uncertain significance 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 143 of the OPA3 protein (p.Ala143Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1004425). 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 tolerated. 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.
Natera, Inc. RCV001835440 SCV002088917 uncertain significance 3-Methylglutaconic aciduria type 3 2021-01-02 no assertion criteria provided clinical testing

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