Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001239574 | SCV001412457 | uncertain significance | Gorlin syndrome; Medulloblastoma | 2019-10-31 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SUFU-related conditions. This sequence change replaces phenylalanine with cysteine at codon 155 of the SUFU protein (p.Phe155Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine. |
| Ambry Genetics | RCV003346405 | SCV004075092 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-18 | criteria provided, single submitter | clinical testing | The p.F155C variant (also known as c.464T>G), located in coding exon 4 of the SUFU gene, results from a T to G substitution at nucleotide position 464. The phenylalanine at codon 155 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |