ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.395C>A (p.Ala132Glu)

dbSNP: rs758982194
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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 RCV002042311 SCV002114388 uncertain significance 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2021-09-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs758982194, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with OPA3-related conditions. 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. 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 sequence change replaces alanine with glutamic acid at codon 132 of the OPA3 protein (p.Ala132Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid.

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