ClinVar Miner

Submissions for variant NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) (rs373075574)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414551 SCV000491193 likely pathogenic not provided 2016-08-17 criteria provided, single submitter clinical testing The R136W variant in the FOXRED1 gene has been reported previously in the compound heterozygous state, along with a frameshift variant, in one patient with mitochondrial complex I deficiency (Haack et al., 2012). The R136W variant was not observed at any significant frequency in approximately 6500 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 R136W 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 R136W as a likely pathogenic variant.
Institute of Human Genetics,Klinikum rechts der Isar RCV000578347 SCV000680238 pathogenic Mitochondrial complex I deficiency 2017-11-15 criteria provided, single submitter clinical testing

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