Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000489313 | SCV000577717 | likely pathogenic | not provided | 2015-06-18 | criteria provided, single submitter | clinical testing | The R199C variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. In silico analysis is inconsistent in its predictions as to whether or not the R199C variant is damaging to the protein structure/function. However, the R199C 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 a missense variant at the same position (R199P) and in nearby residues (Y204C, C206G, A211V) have been reported in the Human Gene Mutation Database in association with mitochondrial complex I deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, the R199C variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded |
| Labcorp Genetics |
RCV000489313 | SCV002943443 | likely benign | not provided | 2023-10-15 | criteria provided, single submitter | clinical testing |