Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000811379 | SCV000951641 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2023-08-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 15 of the SDHC protein (p.Arg15Gln). This variant is present in population databases (no rsID available, gnomAD 0.0009%). ClinVar contains an entry for this variant (Variation ID: 655251). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| Ambry Genetics | RCV001022590 | SCV001184344 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-16 | criteria provided, single submitter | clinical testing | The p.R15Q variant (also known as c.44G>A), located in coding exon 2 of the SDHC gene, results from a G to A substitution at nucleotide position 44. The arginine at codon 15 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |