ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1003C>T (p.Pro335Ser) (rs1057524630)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438050 SCV000536110 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing The P335S variant in the OPA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P335S 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on currently available evidence, we interpret P335S as a variant of uncertain significance.

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