Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001365908 | SCV001562193 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2024-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 151 of the SDHAF2 protein (p.Gln151Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHAF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1056998). 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. 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 | RCV002341778 | SCV002639764 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-04 | criteria provided, single submitter | clinical testing | The p.Q151E variant (also known as c.451C>G), located in coding exon 4 of the SDHAF2 gene, results from a C to G substitution at nucleotide position 451. The glutamine at codon 151 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly 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. |
| Baylor Genetics | RCV004570891 | SCV005056617 | uncertain significance | Paragangliomas 2 | 2023-12-05 | criteria provided, single submitter | clinical testing |