Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001369181 | SCV001565611 | uncertain significance | Gorlin syndrome; Medulloblastoma | 2020-03-10 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glycine at codon 253 of the SUFU protein (p.Glu253Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 | RCV004951629 | SCV005513095 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-09-02 | criteria provided, single submitter | clinical testing | The p.E253G variant (also known as c.758A>G), located in coding exon 7 of the SUFU gene, results from an A to G substitution at nucleotide position 758. The glutamic acid at codon 253 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |