Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000479216 | SCV000564909 | likely pathogenic | not provided | 2015-01-09 | criteria provided, single submitter | clinical testing | A R409W variant that is likely pathogenic was identified in the COX10 gene. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The R409W 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 highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526686 | SCV005039671 | uncertain significance | not specified | 2024-03-20 | criteria provided, single submitter | clinical testing | Variant summary: COX10 c.1225C>T (p.Arg409Trp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 248194 control chromosomes. This frequency does not allow for any conclusion about variant significance. To our knowledge, no occurrence of c.1225C>T in individuals affected with Mitochondrial Complex 4 Deficiency, Nuclear Type 3 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 418144). Based on the evidence outlined above, the variant was classified as uncertain significance. |