Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001024966 | SCV001187066 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-07-10 | criteria provided, single submitter | clinical testing | The p.E206K variant (also known as c.616G>A), located in coding exon 5 of the SUFU gene, results from a G to A substitution at nucleotide position 616. The glutamic acid at codon 206 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly 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. |
| Labcorp Genetics |
RCV001048651 | SCV001212665 | uncertain significance | Gorlin syndrome; Medulloblastoma | 2020-02-12 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 206 of the SUFU protein (p.Glu206Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SUFU-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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. |