ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) (rs80356525)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814602 SCV000955015 pathogenic 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 105 of the OPA3 protein (p.Gln105Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with autosomal dominant optic atrophy and cataract in several families (PMID: 24136862, 15342707, 25159689). ClinVar contains an entry for this variant (Variation ID: 4241). 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. For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092423 SCV001248930 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
OMIM RCV000004463 SCV000024636 pathogenic Optic atrophy 3 2004-09-01 no assertion criteria provided literature only
GeneReviews RCV000004463 SCV000041513 pathologic Optic atrophy 3 2009-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.

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