Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001024802 | SCV001186883 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-14 | criteria provided, single submitter | clinical testing | The p.I200M variant (also known as c.600C>G), located in coding exon 5 of the SUFU gene, results from a C to G substitution at nucleotide position 600. The isoleucine at codon 200 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
| Labcorp Genetics |
RCV001862300 | SCV002164354 | uncertain significance | Gorlin syndrome; Medulloblastoma | 2023-08-27 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 826131). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with SUFU-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 200 of the SUFU protein (p.Ile200Met). |