Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002026347 | SCV002301321 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2023-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 67 of the SDHAF2 protein (p.Arg67Gly). 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. ClinVar contains an entry for this variant (Variation ID: 1513788). This variant has not been reported in the literature in individuals affected with SDHAF2-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV002423263 | SCV002720069 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-22 | criteria provided, single submitter | clinical testing | The p.R67G variant (also known as c.199A>G), located in coding exon 2 of the SDHAF2 gene, results from an A to G substitution at nucleotide position 199. The arginine at codon 67 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is well 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. |
| Baylor Genetics | RCV003475291 | SCV004202933 | uncertain significance | Paragangliomas 2 | 2023-10-05 | criteria provided, single submitter | clinical testing |