Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000693159 | SCV000821015 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2018-02-14 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SDHC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 151 of the SDHC protein (p.Ser151Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. |
| Ambry Genetics | RCV002334302 | SCV002639777 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-20 | criteria provided, single submitter | clinical testing | The p.S151P variant (also known as c.451T>C), located in coding exon 6 of the SDHC gene, results from a T to C substitution at nucleotide position 451. The serine at codon 151 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |