Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001913049 | SCV002174682 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2023-09-30 | criteria provided, single submitter | clinical testing | 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. 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 disruptive. This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 83 of the SDHC protein (p.Ser83Cys). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1401694). |
| Ambry Genetics | RCV002425208 | SCV002742827 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-16 | criteria provided, single submitter | clinical testing | The p.S83C variant (also known as c.248C>G), located in coding exon 5 of the SDHC gene, results from a C to G substitution at nucleotide position 248. The serine at codon 83 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |