ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.2341C>T (p.Arg781Trp) (rs190235251)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195741 SCV000252001 uncertain significance not provided 2018-09-05 criteria provided, single submitter clinical testing The R781W variant in the OPA1 gene has been reported previously in association with optic atrophy, in an individual who was heterozygous for the R781W variant only, and in an individual who was heterozygous for the R781W variant and a second OPA1 variant (Ferré et al., 2009; Chevrollier et al., 2008). The R781W variant is observed in 15/52198 (0.029%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The R781W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R781W as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000287680 SCV000442634 likely benign Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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