Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002995307 | SCV003294948 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2022-05-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 121 of the SDHC protein (p.Val121Ala). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 | RCV003308395 | SCV004000444 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-28 | criteria provided, single submitter | clinical testing | The p.V121A variant (also known as c.362T>C), located in coding exon 5 of the SDHC gene, results from a T to C substitution at nucleotide position 362. The valine at codon 121 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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. |