Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001296216 | SCV001485174 | uncertain significance | Gorlin syndrome; Medulloblastoma | 2021-07-06 | criteria provided, single submitter | clinical testing | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SUFU-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 157 of the SUFU protein (p.Ser157Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. |
| Ambry Genetics | RCV003355360 | SCV004070589 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-07 | criteria provided, single submitter | clinical testing | The p.S157G variant (also known as c.469A>G), located in coding exon 4 of the SUFU gene, results from an A to G substitution at nucleotide position 469. The serine at codon 157 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |