ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.530G>T (p.Ser177Ile) (rs150279202)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197961 SCV000251985 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing The S177I variant in the OPA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S177I variant is observed in 21/66,450 (0.032%) alleles from individuals of European (non-Finnish) background in the ExAC dataset (Lek et al., 2016). The S177I 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 in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S177I as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000400476 SCV000442616 uncertain significance Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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