Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001896081 | SCV002167282 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2022-02-15 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SDHAF2-related conditions. This sequence change replaces serine, which is neutral and polar, with tryptophan, which is neutral and slightly polar, at codon 11 of the SDHAF2 protein (p.Ser11Trp). |
| Ambry Genetics | RCV002458741 | SCV002612003 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-11 | criteria provided, single submitter | clinical testing | The p.S11W variant (also known as c.32C>G), located in coding exon 1 of the SDHAF2 gene, results from a C to G substitution at nucleotide position 32. The serine at codon 11 is replaced by tryptophan, an amino acid with highly dissimilar 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. |
| Baylor Genetics | RCV004571550 | SCV005056612 | uncertain significance | Paragangliomas 2 | 2024-01-30 | criteria provided, single submitter | clinical testing |