Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001898426 | SCV002161830 | uncertain significance | Gorlin syndrome; Medulloblastoma | 2021-11-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SUFU-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 182 of the SUFU protein (p.Asp182Asn). This variant is not present in population databases (gnomAD no frequency). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant disrupts the p.Asp182 amino acid residue in SUFU. Other variant(s) that disrupt this residue have been observed in individuals with SUFU-related conditions (PMID: 25403219; Invitae), which suggests that this may be a clinically significant amino acid residue. 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. |