Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000805614 | SCV000945576 | uncertain significance | Gorlin syndrome; Medulloblastoma | 2024-03-14 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the SUFU gene (p.Ser481Thrfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the SUFU protein and extend the protein by 14 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SUFU-related conditions. ClinVar contains an entry for this variant (Variation ID: 650455). 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 | RCV001011601 | SCV001171940 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-31 | criteria provided, single submitter | clinical testing | The c.1442_1451del10 variant, located in coding exon 12 of the SUFU gene, results from a deletion of 10 nucleotides at nucleotide positions 1442 to 1451, causing a translational frameshift with a predicted alternate stop codon (p.S481Tfs*19). Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of SUFU, is not expected to trigger nonsense-mediated mRNA decay, and results in the elongation of the protein by 14 amino acids. The exact functional impact of these inserted amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |