ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.532A>G (p.Lys178Glu) (rs767372876)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195966 SCV000252021 likely benign not specified 2014-11-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001234655 SCV001407312 uncertain significance 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2019-07-18 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 178 of the OPA3 protein (p.Lys178Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs767372876, ExAC 0.01%). This variant has not been reported in the literature in individuals with OPA3-related disease. ClinVar contains an entry for this variant (Variation ID: 214926). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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