Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001054933 | SCV001219292 | uncertain significance | Gorlin syndrome; Medulloblastoma | 2023-07-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SUFU-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SUFU protein function. ClinVar contains an entry for this variant (Variation ID: 850706). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 348 of the SUFU protein (p.Glu348Gln). |
| Ambry Genetics | RCV002400313 | SCV002708254 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-25 | criteria provided, single submitter | clinical testing | The p.E348Q variant (also known as c.1042G>C), located in coding exon 9 of the SUFU gene, results from a G to C substitution at nucleotide position 1042. The glutamic acid at codon 348 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |